[HTML][HTML] Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review
SM Kankipati, A Mahalingam, A Reshie, F Fayaz… - Cureus, 2024 - ncbi.nlm.nih.gov
Researching Waardenburg syndrome (WS) underscores its rarity and complex
symptomatology, presenting as a congenital disorder predominantly inherited in an …
symptomatology, presenting as a congenital disorder predominantly inherited in an …
[引用][C] Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV
A Viñuela, M Morín, M Villamar… - American Journal of …, 2009 - Wiley Online Library
Waardenburg syndrome type IV (WS4), also known as Shah–Waardenburg syndrome or
Waardenburg–Hirschsprung disease (OMIM 277580), is a rare congenital disorder …
Waardenburg–Hirschsprung disease (OMIM 277580), is a rare congenital disorder …
Clinical and Molecular Genetic Characterization of Waardenburg Syndrome
AM Almatrafi - … Academic Journal of Biological Sciences. C …, 2022 - eajbsc.journals.ekb.eg
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous rare genetic
disorder encompassing a wide spectrum of anomalies. WS is divided into four primary …
disorder encompassing a wide spectrum of anomalies. WS is divided into four primary …
Waardenburg-Shah syndrome; A case report and review of the literature
F Eghbalian - 2008 - sid.ir
Objective: Waardenburg syndrome is a rare disease characterized by sensorineural
deafness in association with pigmentary anomalies and defects of neural-crest-derived …
deafness in association with pigmentary anomalies and defects of neural-crest-derived …
Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations
Waardenburg syndrome (WS) is a disease of abnormal neural-crest derived melanocyte
development characterized by hearing loss and pigmentary disturbances in hair, eyes and …
development characterized by hearing loss and pigmentary disturbances in hair, eyes and …
[PDF][PDF] Association of Hirschsprung disease with Waardenburg syndrome and role of gene studies: A review of 2 cases
NK Dipak, S Parab, A Nage… - Indian Journal of Child …, 2018 - researchgate.net
ABSTRACT Background: Waardenburg-Shah syndrome type 4 is an association of
Waardenburg syndrome with Hirsch sprung disease. Three disease-causing genes have …
Waardenburg syndrome with Hirsch sprung disease. Three disease-causing genes have …
[PDF][PDF] A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV
Waardenburg syndrome type IV (WS4), also called Shah–Waardenburg syndrome and
Waardenburg–Hirschsprung disease (OMIM 277580), is a rare congenital disorder …
Waardenburg–Hirschsprung disease (OMIM 277580), is a rare congenital disorder …
[HTML][HTML] A case of Waardenburg-Shah syndrome type 4 presenting with bilateral homochromatic blue Irises from Pakistan
M Nusrat, MA Tariq, S Aslam, A Zil-E-Ali, M Shahid… - Cureus, 2018 - ncbi.nlm.nih.gov
Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations
affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an …
affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an …
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
S Zardadi, S Rayat, MH Doabsari, A Alishiri… - BMC pediatrics, 2021 - Springer
Background Waardenburg syndrome (WS) is a rare genetic disorder. The purpose of this
study was to investigate clinical and molecular characteristics of WS in four probands from …
study was to investigate clinical and molecular characteristics of WS in four probands from …
[PDF][PDF] A Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family
Waardenburg Syndrome (WS) is a congenital auditory-pigmentary syndrome. We, herein,
present a case of a 1.5 year girl presenting with bilateral hearing impairment. Detailed …
present a case of a 1.5 year girl presenting with bilateral hearing impairment. Detailed …