Associated Papers
Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.
Charfeddine C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.
Furniss M et al.
The Journal of Investigative Dermatology, 2014
Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.
Cui H et al.
The Journal of Investigative Dermatology, 2013
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E et al.
Nature Genetics, 2012
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