Congenital Contractural Arachnodactyly.
Callewaert B.
Callewaert B.
2001 Jan 23 [updated 2022 Jul 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2001 Jan 23 [updated 2022 Jul 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301560
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DIAGNOSIS/TESTING: The diagnosis of CCA can be established in a proband with suggestive findings and a heterozygous FBN2 pathogenic variant identified by molecular genetic testing; however, locus heterogeneity is likely given that only 25%-75% of individuals with clinicall …
DIAGNOSIS/TESTING: The diagnosis of CCA can be established in a proband with suggestive findings and a heterozygous FBN2 pathogenic v …