Results 81 to 90 of about 1,003 (155)

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

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1716-1718, July 2026.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Short-Term Morpho-Functional Changes before and after Strabismus Surgery in Children Using Structural Optical Coherence Tomography: A Pilot Study

Vision
Purpose: To evaluate the immediate alterations in the thickness of the macular ganglion cell–inner plexiform layer (mGCIPL), peripapillary retinal nerve fiber layer (RNFL), inner retinal layer (IRL), and outer retinal layer (ORL) using spectral domain ...
Pasquale Viggiano, Marida Gaudiomonte, Ugo Procoli, Luisa Micelli Ferrari, Enrico Borrelli, Giacomo Boscia, Andrea Ferrara, Fabio De Vitis, Gemma Scalise, Valeria Albano, Giovanni Alessio, Francesco Boscia   +11 more
doaj   +1 more source

From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith–Magenis Syndrome and the Importance of the Diagnostic Pathway

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Smith–Magenis syndrome (SMS) is a rare multisystem genetic disorder caused by a 17p11.2 microdeletion or pathogenic variants in the retinoic acid‐induced 1 (RAI1) gene. It is characterized by developmental delay, distinctive craniofacial features, behavioral dysregulation, and inverted sleep–wake rhythm.
Fethiye Kılıçaslan, Ayşe Rümeysa Olgar Çetin, Özlem Öz, Mert Coşkun, Mehmet Burak Mutlu, Berna Polat Tüysüz   +5 more
wiley   +1 more source

Strabismus management in retinoblastoma survivors

BMC Ophthalmology
Purpose To report the result of strabismus surgery in eye-salvaged retinoblastoma (Rb) patients. Methods A retrospective case series including 18 patients with Rb and strabismus who underwent strabismus surgery after completing tumor treatment by a ...
Babak Masoomian, Carol L. Shields, Hamid Riazi Esfahani, Atefeh Khalili, Fariba Ghassemi, Pukhraj Rishi, Mohammad Reza Akbari, Masoud Khorrami-Nejad   +7 more
doaj   +1 more source

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem, Laraib Ghanghro, Ayesha Khan, Maryam Khalid, Salwa Bashir, Dania Iqbal, Adan Ali, Hussain Haider Shah, Sameer Abdul Rauf, Humaira Kalam   +9 more
wiley   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Automated detection of steps in videos of strabismus surgery using deep learning

BMC Ophthalmology
Background Learning to perform strabismus surgery is an essential aspect of ophthalmologists’ surgical training. Automated classification strategy for surgical steps can improve the effectiveness of training curricula and the efficient evaluation of ...
Ce Zheng, Wen Li, Siying Wang, Haiyun Ye, Kai Xu, Wangyi Fang, Yanli Dong, Zilei Wang, Tong Qiao   +8 more
doaj   +1 more source

Novel Mutations in the MC2R Gene in a Patient With Familial Glucocorticoid Deficiency (FGD): A Case Report and Functional Study

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Compound heterozygous MC2R variants were identified and shown to reduce receptor expression and ACTH‐induced cAMP signaling, confirming their pathogenic role in familial glucocorticoid deficiency. ABSTRACT Purpose Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by resistance to adrenocorticotropic hormone ...
Ni Zhen, Yonghui Tao, Chuanyin Li, Wenli Lu   +3 more
wiley   +1 more source

Concurrent adjacent strabismus surgery with glaucoma drainage device placement in childhood glaucomas

BMC Ophthalmology
Background Determine outcomes of concurrent strabismus surgery with placement of a glaucoma drainage device (GDD) in children. Methods Retrospective review of pediatric patients who underwent simultaneous lateral rectus (LR) muscle surgery with ...
Adam Jacobson, Brenda L. Bohnsack
doaj   +1 more source