McKusick-Kaufman Syndrome.
Slavotinek AM.
Slavotinek AM.
2002 Sep 10 [updated 2020 Dec 3]. 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.
2002 Sep 10 [updated 2020 Dec 3]. 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: 20301675
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The molecular diagnosis can be established in proband with suggestive findings and biallelic pathogenic variants in MKKS identified by molecular genetic testing. However, care must be taken to ensure that the proband does not have Bardet-Biedl syndrome, an allelic conditio …
The molecular diagnosis can be established in proband with suggestive findings and biallelic pathogenic variants in MKKS identified b …