Results 31 to 40 of about 2,495 (204)

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

, 2020
Purpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides–Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. Other disorders due
Low, Karen J., Wilson, Kate, Firth, Helen, Aref-Eshghi, Erfan, Jouan, Thibaud, Brunetti-Pierri, Nicola, Chapman, Kimberly A., Hennekam, Raoul C M, Chapman, Kimberly, Carrella, Diego, Sousa, Sérgio, Bruel, Ange Line, Metcalfe, Kay, Buchanan, Catherine A, Low, Karen, Chapman, Kimberly A, Piard, Juliette, C, George-Abraham, Jaya K., Dias, Cristina, Kerkhof, Jennifer, Moutton, Sébastien, Nigro, Vincenzo, Williams, Denise, Pinelli, Michele, Dubourg, Christèle, Gerard, Bénédicte, Vitobello, Antonio, Eichler, Evan, Moh, Anna, Dias, Cristina; id_orcid, ?, ?, Kennani, Sara El, Duffourd, Yannis, Thevenon, Julien, Vitiello, Giuseppina, Low, Karen J, Buchanan, Catherine, Piard, Juliette, Torella, Annalaura, Devillard, Françoise, Buchanan, Catherine A., Hančárová, Miroslava, Yamamoto, Toshiyuki, Piton, Amélie, George-Abraham, Jaya K, Thauvin-Robinet, Christel, Govin, Jérôme, Sá, Joaquim, Hennekam, Raoul, C M, Cappuccio, Gerarda, Bruel, Ange-Line, Eichler, Evan E, Kini, Usha, Sayou, Camille, Sadikovic, Bekim, Okamoto, Nobuhiko, Sousa, Sérgio B, Casari, Giorgio, Havlovicová, Markéta, Eichler, Evan E., Tanno, Pauline Le, Odent, Sylvie, Perrin, Laurence, Musacchia, Francesco, Van-Gils, Julien, Mutarelli, Margherita, Tisserant, Emilie, George-Abraham, Jaya, Le Guyader, Gwenaël   +68 more
core   +4 more sources

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

A Boy With Mental Retardation, Blepharophimosis And Hypothyroidism: A Diagnostic Dilemma Between Young-simpson And Ohdo Syndrome.

, 2015
We report a male infant with an association of hypothyroidism and unusual facies, including blepharophimosis, which is similar to the dysmorphic features observed in the condition first described by Young and Simpson [(1987) J Med Genet 24:715-7161.
Júnior, G G, Maciel-Guerra, A T, Baptista, M T, Marques-de-faria, A P   +3 more
core   +2 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient

Egyptian Journal of Medical Human Genetics, 2022
Background Intellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333) is a very rare condition, characterized by more than 80% by language delay, intellectual disability, gross motor development delay, broad nasal bridge ...
Hugo H. Abarca-Barriga, Felix Chavesta Velásquez, Renzo Punil Luciano   +2 more
doaj   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, Volume 293, Issue 12, Page 3502-3527, June 2026.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome

, 2016
Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis-ptosis-epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome.
Ramineni, Anand, Coman, David
core   +1 more source

Syndrome de blépharophimosis: une forme particulière du ptosis congénital

The Pan African Medical Journal, 2015
Le syndrome de blépharophimosis est une malformation palpébrale congénitale caractérisée par l'association d'un ptosis majeur bilatéral à d'autres anomalies palpébrales.
Hanan Handor, Zouheir Hafidi, Mina Laghmari, Ihsane Sabrane, Olive Rosine Mastanga, Rajae Daoudi   +5 more
doaj   +1 more source

Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome

Frontiers in Genetics, 2022
Tatton–Brown–Rahman syndrome (TBRS) and Say–Barber–Biesecker– Young–Simpson variant of Ohdo syndrome (SBBYSS) are extremely rare genetic disorders with less than 100 reported cases.
Sunha Park, Jaewon Kim, Tae-Young Song, Dae-Hyun Jang   +3 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source