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Rapp–Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay–Wells syndrome

✍ Scribed by Peter Kannu; Ravi Savarirayan; Linda Ozoemena; Susan M. White; John A. McGrath

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 235 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31187

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## Abstract We report on a patient with an interstitial deletion of the long arm of chromosome 2 at 2q31.2q33.2. She had prenatal and postnatal growth retardation, microcephaly, facial dysmorphism, cleft palate, camptodactyly, bilateral talipes equinovarus, severe intellectual disability, and ectod