A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

BACKGROUND: Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, havin...

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Detalles Bibliográficos
Autores principales: Khan, Anwar Kamal, Muhammad, Noor, Aziz, Abdul, Khan, Sher Alam, Shah, Khadim, Nasir, Abdul, Khan, Muzammil Ahmad, Khan, Saadullah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389142/
https://www.ncbi.nlm.nih.gov/pubmed/28403827
http://dx.doi.org/10.1186/s12881-017-0402-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389142/
https://www.ncbi.nlm.nih.gov/pubmed/28403827
http://dx.doi.org/10.1186/s12881-017-0402-y

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