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PTCH1 duplication in a family with microcephaly and mild developmental delay

✍ Scribed by Derwińska, Katarzyna; Smyk, Marta; Cooper, Mitchell Lance; Bader, Patricia; Cheung, Sau Wai; Stankiewicz, Paweł

Book ID
109847801
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
173 KB
Volume
17
Category
Article
ISSN
1018-4813

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Mild growth retardation and developmenta
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## Abstract We describe a brother and sister from one family and a girl from a second, unrelated family; they have a syndrome of pre‐ and postnatal growth deficiency, developmental delay, a friendly personality, microcephaly, and a distinctive facial appearance marked by thick eyebrows, full cheeks