c.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms

OBJECTIVE: To identify genetic causes of Shabbir syndrome in two patients of Pakistani origin. METHODS: In the present study, we have investigated a Pakistani family with two affected members segregating Laryngo-onycho-cutaneous (LOC) syndrome. The patients were diagnosed as suspected cases of LOC b...

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Detalles Bibliográficos
Autores principales: Ullah, Asmat, Syed, Fibhaa, Khan, Shazia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10364244/
https://www.ncbi.nlm.nih.gov/pubmed/37492301
http://dx.doi.org/10.12669/pjms.39.4.6926

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10364244/
https://www.ncbi.nlm.nih.gov/pubmed/37492301
http://dx.doi.org/10.12669/pjms.39.4.6926

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