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