Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14

In a multi-branch family from Pakistan, individuals presenting with palmoplantar keratoderma segregate in autosomal dominant fashion, and individuals with intellectual disability (ID) segregate in apparent autosomal recessive fashion. Initial attempts to identify the ID locus using homozygosity-by-d...

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Detalles Bibliográficos
Autores principales: Pastore, Stephen F., Muhammad, Tahir, Harripaul, Ricardo, Lau, Rebecca, Khan, Muhammad Tariq Masood, Khan, Muhammad Ismail, Islam, Omar, Kang, Changsoo, Ayub, Muhammad, Jelani, Musharraf, Vincent, John B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8632963/
https://www.ncbi.nlm.nih.gov/pubmed/34848785
http://dx.doi.org/10.1038/s41598-021-02599-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8632963/
https://www.ncbi.nlm.nih.gov/pubmed/34848785
http://dx.doi.org/10.1038/s41598-021-02599-z

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