| Title : A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia - |
| Author(s) : Hamada K , Kubo R , Nishio D , Nakamura M |
| Ref : Eur J Dermatol , 24 :272 , 2014 |
| PubMedID: 24722066 |
| Gene_locus related to this paper: human-LIPH |