ATP6V0A2-Related Cutis Laxa.
Van Maldergem L, Dobyns W, Kornak U.
Van Maldergem L, et al.
2009 Mar 19 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
2009 Mar 19 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID: 20301755
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At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. ...
At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During …