Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33959/fullpdf
Reference6 articles.
1. PTCH1 duplication in a family with microcephaly and mild developmental delay;Derwinska;Eur J Hum Genet,2009
2. Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review;Heller;J Med Genet,2000
3. Patient with partial trisomy 9q and learning disability but no pyloric stenosis;Hengstschlager;Dev Med Child Neurol,2004
4. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly;Ming;Hum Genet,2002
5. Prenatal ultrasound findings in complete trisomy 9;Sepulveda;Ultrasound Obstet Gynecol,2003
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