Results 31 to 40 of about 3,419 (204)

Glomerulopathy in patients with distal duplication of chromosome 6p [PDF]

, 2016
Background: Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a ...
Bernaciak, Joanna, Bjerre, Anna, Jankauskienė, Augustina, Koczkowska, Magdalena, Lipska-Ziętkiewicz, Beata S., Schaefer, Franz   +5 more
core   +1 more source

Waardenburg or Blepharophimosis ptosis epicanthus inversus syndrome? – An enigmatic riddle

Kerala Journal of Ophthalmology
Waardenburg syndrome (WS) is a genetic disorder that may be discernible right at birth. The syndrome is well known to have heterogeneous expression; the range, and severity of which may vary greatly from case to case, even among the individuals of the ...
Deepsekhar Das, Mandeep S. Bajaj, Parag Tyagi, Saloni Gupta, Sahil Agrawal   +4 more
doaj   +1 more source

Severe Megaloblastic Anaemia in an Infant [PDF]

, 2011
Vitamin B 12 or cobalamin deficiency, a rare clinical entity in pediatric age, is found most exclusively in breastfed infants, whose mothers are strictly vegetarian non-supplemented or with pernicious anaemia.
Brito, MJ, Cordeiro Ferreira, G, Dias, A, Galvão, I, Rodrigues, V   +4 more
core   +2 more sources

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

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

Blepharophimosis Syndrome

Journal of Bharatpur Hospital
Blepharophimosis syndrome (BPES) is a rare congenital condition primarily affecting the eyelids, leading to distinctive facial features. It is characterized by bilateral ptosis (drooping of the upper eyelids), shortened horizontal palpebral fissures (narrowed eye openings), epicanthus inversus (an upward fold of skin near the inner corner of the eye ...
Neuhouser AJ, Zeppieri M, Harrison AR.
europepmc   +2 more sources

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and cleft lip and palate. Report of two Brazilian families

Genetics and Molecular Biology, 1998
We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). The girl presented cleft palate and the boy showed cleft lip and palate as additional clinical signs.
N.M. Kokitsu-Nakata, A. Richieri-Costa
doaj   +1 more source

Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby

Developmental Dynamics, EarlyView.
Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe, Yu Chen, Geoff Shaw, Marilyn B. Renfree   +3 more
wiley   +1 more source

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

The FEBS Journal, EarlyView.
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

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