Results 41 to 50 of about 1,661,396 (150)

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, EarlyView.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.

, 2003
AIMS: To report the detailed clinical findings in a three generation pedigree with autosomal dominant cataract, microcornea, and coloboma resulting from mutation of the lens development gene, MAF. METHODS: Five members of a three generation pedigree with
Jamieson, R.V., Farrar, N., Perveen, R., Balmer, A., Munier, F., Black, G.C.   +5 more
core   +1 more source

Retinitis pigmentosa with iris coloboma due to miR‐204 gene variant in a Chinese family

Molecular Genetics & Genomic Medicine
Purpose To characterize the phenotype and genotype of a Chinese family with autosomal‐dominant retinitis pigmentosa (RP) accompanied by iris coloboma.
Zhang Lei, Zhu He‐Lin, Wang Hai‐Yan, Jia Wei, Wang Ru, Cui Zhi‐Li, Wang Qian‐Feng   +6 more
doaj   +1 more source

Genomic Profiling of Anophthalmia/Microphthalmia‐Associated CNVs Reveals Complex Genotype–Phenotype Correlations and Incomplete Penetrance

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Genomic profiling of four families with anophthalmia/microphthalmia‐associated copy number variations (CNVs) revealed marked phenotypic variability, including incomplete penetrance of OTX2‐related microphthalmia. These findings highlight the importance of phenotype‐driven interpretation of CNVs beyond standard pathogenicity scoring.
Dong Wu, Mengting Zhang, Qian Zhang, Fengyang Wang, Qiaofang Hou, Hongyan Liu, Shixiu Liao, Hai Xiao   +7 more
wiley   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, Volume 110, Issue 3, Page 369-373, September 2026.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

A rare occurrence of superior retinochoroidal coloboma: A case report

Indian Journal of Ophthalmology. Case Reports
Purpose: To brief a rare case of superior retinochoroidal coloboma and to analyze the possible embryogenic aspects involved in its provenance. Method: A case report.
Sayan Mukerjee, Sourabh Patwardhan, Nidhi Patwardhan   +2 more
doaj   +1 more source

Prevalences of Known and Presumed Inherited Eye Diseases in Pugs in Germany

Veterinary Ophthalmology, Volume 29, Issue 5, September 2026.
ABSTRACT The aim of this retrospective study was to describe the prevalence and distribution of presumed inherited eye diseases in pugs in Germany and to evaluate potential risk factors for selected diseases. Therefore, ophthalmic findings from 294 pugs provided by the German panel of the European Eye Scheme programme were analyzed retrospectively ...
Carolin Lemle, Clara Koch, Andrea Meyer‐Lindenberg   +2 more
wiley   +1 more source

The technical and practical implementation of fundus photography in equids

Equine Veterinary Education, Volume 38, Issue 7, Page 371-381, July 2026.
Summary Background Fundus photography is an important diagnostic tool in human and veterinary medicine. Advances in research are increasing its accessibility in human medicine. However, there is a lack of studies on modern fundus photography in animals, particularly in horses. Objectives To assess the use of a portable fundus camera developed for human
I. Vierling, B. Wollanke, V. Franzen
wiley   +1 more source

Lensectomía refractiva en coloboma de iris

Revista Cubana de Oftalmología, 2020
RESUMEN El coloboma de iris es un defecto congénito, que se describe como un orificio, fisura o hendidura en dicha estructura. Esta condición tiene la posibilidad de ser hereditaria o aparecer sin historia familiar previa.
Gisselle Rivera Jiménez, Dunia Cruz Izquierdo, Yaima Cabrera Ruiz, Manuel Alejandro Múzquiz Jiménez, Arturo Enríquez Garza, Martha Isabel Cerón Muñoz   +5 more
doaj  

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu, Guoqiang Li, Yimin He, Yiyao Chen, Lu‐lu Li, Niu Li, Shuyuan Li, Jian Wang   +7 more
wiley   +1 more source