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Article

VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community.

American journal of medical genetics - 16 May 1997

Lurie I W, Ferencz C

Abstract excerpt

Phenotypic manifestations of the autosomal recessive form of VACTERL-hydrocephaly syndrome (David-O'Callaghan syndrome) and the X-linked recessive form (Hunter-MacMurray) syndrome are almost identical. The absence of cardiovascular malformations in cases with undoubtedly X-linked inheritance may be the only exception. The comparison of patients with David-O'Callaghan syndrome and nonclassified sporadic cases of...

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Source

Identifiers

PMID: 9128933
DOI: 10.1002/(sici)1096-8628(19970516)70:2<144::aid-ajmg8>3.0.co;2-y

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