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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMC Med Genet
Päätekijät: Khan, Anwar Kamal, Muhammad, Noor, Aziz, Abdul, Khan, Sher Alam, Shah, Khadim, Nasir, Abdul, Khan, Muzammil Ahmad, Khan, Saadullah
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2017
Aiheet:
Research Article
Linkit: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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