Results 141 to 150 of about 436,684 (219)

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

American Journal of Human Genetics, 2018
H. Olson, Nolwenn Jean-Marçais, E. Yang, D. Heron, K. Tatton-Brown, P. A. Zwaag, E. Bijlsma, Bryan L. Krock, Bryan L. Krock, E. Backer, E. Kamsteeg, M. Sinnema, Margot R. F. Reijnders, D. Bearden, Amber Begtrup, A. Telegrafi, R. Lunsing, L. Burglen, L. Burglen, G. Lesca, G. Lesca, G. Lesca, M. Cho, Lacey Smith, B. Sheidley, Christelle Moufawad Achkar, P. Pearl, A. Poduri, Cara M Skraban, Jennifer M. Tarpinian, Addie I. Nesbitt, Addie I. Nesbitt, D. F. Putte, C. Ruivenkamp, P. Rump, N. Chatron, N. Chatron, N. Chatron, I. Sabatier, J. Bellescize, L. Guibaud, D. Sweetser, Jessica L. Waxler, K. Wierenga, J. Donadieu, V. Narayanan, K. Ramsey, C. Nava, J. Rivière, A. Vitobello, F. T. Mau-Them, C. Philippe, A. Bruel, Y. Duffourd, Laurel Thomas, Stefan H. Lelieveld, J. Schuurs-Hoeijmakers, H. Brunner, H. Brunner, B. Keren, J. Thevenon, L. Faivre, G. Thomas, C. Thauvin-Robinet   +63 more
semanticscholar   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, Volume 109, Issue 6, Page 1076-1080, June 2026.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype

The Turkish Journal of Pediatrics, 2011
Chromosome 2q37 microdeletion syndrome is a rare disorder characterized by mild-moderate psychomotor and growth retardation, autistic-like behavior, Albright hereditary osteodystrophy-like metacarpal/metatarsal shortening, and facial ...
Pelin Ozlem Simşek-Kiper, Gülen Eda Utine, Yasemin Alanay, Dilek Aktaş, Mehmet Alikaşifoğlu, Koray Boduroğlu   +5 more
doaj  

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, Volume 109, Issue 6, Page 1038-1048, June 2026.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

Disability in a medieval village community: a unique case of facial dysmorphism

, 2019
International audienceArchaeological excavations carried out in the 1990s in the former rural parish of Rigny (Indre-et-Loire, France) uncovered 1738 graves.
Laure, Boris, Miclon, Valentin, Zadora-Rio, Elisabeth, Bédécarrats, Samuel, Herrscher, Estelle, Gaultier, Matthieu, Coqueugniot, Hélène   +6 more
core   +1 more source

Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome

Purpose: Facial dysmorphism is a feature of many monogenic disorders, and is important in diagnostics, variant interpretation and nosology. Nevertheless, comprehensively assessing the complex facial shape changes associated with specific syndromes ...
Matthews, Harold, Walsh, Susan, Spritz, Richard A., Claes, Peter, Hallgrímsson, Benedikt, Vanneste, Michiel, Hammond, Peter, Peeters, Hilde, Weinberg, Seth M., Klein, Ophir D., Shriver, Mark, Van Den Bogaert, Kris, Sleyp, Yoeri, Marazita, Mary L.   +13 more
core   +1 more source

P05.05: Facial dysmorphisms associated with holoprosencephaly [PDF]

Ultrasound in Obstetrics & Gynecology, 2009
S. Kim, Y. Jo
openaire   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report

BMC Pediatrics
Background Zellweger spectrum disorders (ZSDs) are a group of peroxisome biogenesis disorders (PBDs) with different variants in the PEX genes. The main biochemical marker for screening peroxisomal disorders is very long-chain fatty acids (VLCFAs).
Bita Barazandeh Shirvan, Najmeh Ahangari, Razie Rezaie, Parvaneh Layegh, Ehsan Ghayoor Karimiani, Narges Hashemi, Mehran Beiraghi Toosi   +6 more
doaj   +1 more source

Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome

OBJECTIVE: To determine the nature and course of ophthalmologic abnormalities in congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome in a genetically verified group of 9 patients. STUDY DESIGN: Observational case series.
Klebermass N, Kalaydjieva L, Lochmuller H, Mullner-Eidenbock A, Amon M, Gooding R, Walter MC, Moser E   +7 more
core