Joubert Syndrome.
Parisi M, Glass I.
Parisi M, et al.
2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301500
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GENETIC COUNSELING: JS is predominantly inherited in an autosomal recessive manner. JS caused by pathogenic variants in OFD1 is inherited in an X-linked manner. Digenic inheritance has been reported. For autosomal recessive inheritance: at conception, each sib of an affect …
GENETIC COUNSELING: JS is predominantly inherited in an autosomal recessive manner. JS caused by pathogenic variants in OFD1 is inher …