PRICKLE1-Related Disorders.
Mastrangelo M, Caputi C, Esposito D, Leuzzi V.
Mastrangelo M, et al.
2009 Sep 8 [updated 2022 Apr 21]. 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.
2009 Sep 8 [updated 2022 Apr 21]. 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: 20301774
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DIAGNOSIS/TESTING: The diagnosis of a PRICKLE1-related disorder is established in a proband with suggestive findings and biallelic or heterozygous pathogenic variant(s) in PRICKLE1 identified by molecular genetic testing. ...PRICKLE1-related phenotypes associ …
DIAGNOSIS/TESTING: The diagnosis of a PRICKLE1-related disorder is established in a proband with suggestive findings and biallelic or …