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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Khan, Anwar Kamal, Muhammad, Noor, Aziz, Abdul, Khan, Sher Alam, Shah, Khadim, Nasir, Abdul, Khan, Muzammil Ahmad, Khan, Saadullah
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5389142/
https://ncbi.nlm.nih.gov/pubmed/28403827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0402-y
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