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Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion

✍ Scribed by Piranit N. Kantaputra; Chanin Limwongse; Chintana Tochareontanaphol; Apiwat Mutirangura; Umnat Mevatee; Verayuth Praphanphoj


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
292 KB
Volume
140A
Category
Article
ISSN
1552-4825

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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