Results 1 to 10 of about 20,549 (261)

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
wiley   +1 more source

A dominant missense variant within LMBR1 related to equine polydactyly

Communications Biology
Polydactyly was recorded before 100 BCE and attracted widespread interest because of its relationship to limb health and ancestral traits in horses. However, the underlying reasons for the development of polydactyly remain unclear.
Yue Luan, Ling Zhong, Cao Li, Xiaoyu Yue, Mengyan Ye, Jianpeng Wang, Yiping Zhu, Qin Wang   +7 more
doaj   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly

Journal of Orthopaedic Surgery and Research
Background Polydactyly is a prevalent congenital anomaly with an incidence of 2.14 per 1000 live births in China. GLI family zinc finger 3 (GLI3) is a classical causative gene of polydactyly, and serves as a pivotal transcription factor in the hedgehog ...
Run-Yan Wang, Qin Xiong, Si-Hua Chang, Jie-Yuan Jin, Rong Xiang, Lei Zeng, Fang Yu   +6 more
doaj   +1 more source

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

iNew Medicine, Volume 2, Issue 2, June 2026.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen, Dehuan Huang, Jingcheng Sang, Yiqi Yin, Caiyun Wu, Yan Hao, Dawei Chen, Zhiguo Zhang, Yunxia Cao, Ri‐Cheng Chian, Ping Zhou   +10 more
wiley   +1 more source

Cilia in Nervous System Development, Function, and Disease

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley   +1 more source

First-trimester prenatal diagnosis of Ellis–van Creveld syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To present the perinatal findings and first-trimester molecular and transabdominal ultrasound diagnosis of a fetus with Ellis–van Creveld (EvC) syndrome.
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang   +4 more
doaj   +1 more source

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source