Results 31 to 40 of about 3,568 (145)

The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report

Journal of Medical Case Reports, 2019
Background It is important that multiple genetic diagnoses are not missed. This case report describes the clinical features and management of a patient with co-inheritance of Waardenburg syndrome type 4 or Waardenburg-Shah syndrome, an extremely rare ...
Angela E. Rankine-Mullings, Graham Serjeant, Zachary Ramsay, Neil A. Hanchard, Monika Asnani   +4 more
doaj   +1 more source

An Infant With Phakomatosis Pigmentovascularis Complicated by Multisystem Damage: Elaborate Care Leads to a Positive Outcome

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT This report highlights the value of multidisciplinary collaboration, personalized care, dynamic monitoring of seizure activity, and innovative skin management in a 2‐month‐old with Phakomatosis Pigmentovascularis. In parallel, the nursing team implemented a multidimensional “medical–social–psychological” support model, providing psychological ...
Kaimin Chen, Xiaoxia Huang, Xin Jin, Lilan He, Mingzhu He, Wenli Shen, Yuling Zheng   +6 more
wiley   +1 more source

A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

BMC Pediatrics, 2018
Background Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2.
Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, Tatsuhiko Tsunoda, Hiroshi Terashima, Noriko Morimoto, Tatsuo Matsunaga   +6 more
doaj   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Vitiligo

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 8, Page 968-987, August 2025.
Summary Vitiligo is a common pigment disorder of the skin resulting in destruction of melanocytes. Non‐segmental vitiligo (NSV) is an autoimmune disorder. The etiopathogenesis of segmental vitiligo (SV) remains incompletely understood. Genetic predisposition and increased vulnerability of melanocytes towards stressors lead to a melanocyte‐specific CD8+
Markus Böhm, Adrian Tanew
wiley   +2 more sources

Upregulation of the Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4

Disease Models & Mechanisms, 2016
Waardenburg syndrome is a neurocristopathy characterized by a combination of skin and hair depigmentation, and inner ear defects. In the type 4 form, these defects show comorbidity with Hirschsprung disease, a disorder marked by an absence of neural ...
Karl-F. Bergeron, Chloé M. A. Nguyen, Tatiana Cardinal, Baptiste Charrier, David W. Silversides, Nicolas Pilon   +5 more
doaj   +1 more source

The Diverse Genetic Landscape of Hearing Impairment in South African Families

Clinical Genetics, Volume 108, Issue 5, Page 511-520, November 2025.
South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M. Leal   +10 more
wiley   +1 more source

Refining the Sox10Dom/+ mouse model: A new breeding strategy with relevance to Hirschsprung disease genetics

Animal Models and Experimental Medicine, Volume 8, Issue 10, Page 1866-1875, October 2025.
This study optimized the breeding strategy for Sox10Dom/+ mice, enhancing research efficiency. By self‐breeding the progeny B6C3Fe‐g, resulting from the cross of B6C3Fe Sox10Dom/+ males with C57BL/6J females, it was found to have a higher number of offspring and greater survival rates compared to the B6C3Fe strain, while maintaining genetic and ...
Chaoting Lan, Jiazhang Chen, Shenwei Huang, Yide Mu, Qiuhua Wang, Xin Zhong, Ning Tang, Xinying Zhao, Jieting Lu, Yuxin Wu, Lihua Huang, Jixiao Zeng, Wei Zhong, Yu Ouyang, Qiuming He, Yan Zhang   +15 more
wiley   +1 more source

Shared Lineage, Distinct Outcomes: Yap and Taz Loss Differentially Impact Schwann and Olfactory Ensheathing Cell Development Without Disrupting GnRH‐1 Migration

Glia, Volume 73, Issue 10, Page 2077-2097, October 2025.
Main Points OECs, SCs, and Mel derive from SCPs. Sox10Cre;YapHet;TazKO mice show impaired SC maturation, reduced Mel formation, fewer SCPs, OECs, and olfactory neurons, but normal GnRH‐1 neuron migration. ABSTRACT Olfactory Ensheathing Cells (OECs) are glial cells originating from the neural crest and are critical for bundling olfactory axons to the ...
Ed Zandro M. Taroc, Enrico Amato Jr., Alexis M. Semon, Nikki Dolphin, Briane Beck, Sophie Belin, Yannick Poitelon, Paolo E. Forni   +7 more
wiley   +1 more source

Epidemiology and Surgical Management of Hirschsprung's Disease in France: A 12‐Year Retrospective Analysis (2012–2023)

Acta Paediatrica, Volume 114, Issue 10, Page 2526-2534, October 2025.
ABSTRACT Aim Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system, leading to functional intestinal obstruction in neonates and young children. This study aimed to assess the epidemiology and surgical management of HSCR in France over a 12‐year period using nationwide data.
Xavier Xu Wang, Wilguy Doisy, Seydou Goro, Sadek Harichane, Mathilde Rousseau, Marc Bellaiche, Camille Jung   +6 more
wiley   +1 more source