Published Date: April 12, 2014

Full Text Article

A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia


Authors: Kaoru Hamada, Rieko Kubo, Daisuke Nishio, Motonobu Nakamura


Eur J Dermatol. 2014 Mar-Apr;24(2):272-3. doi: 10.1684/ejd.2014.2306.

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PMID: 24722066DOI: 10.1684/ejd.2014.2306