Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification

American Journal of Medical Genetics
T OgataH Hajikano

Abstract

We report on a Japanese boy with oto-palato-digital syndrome type II, an X-linked lethal congenital skeletal dysplasia. The clinical, radiological and histological findings indicate that defective intramembranous ossification may be the principal abnormality responsible for the entity.

References

Sep 1, 1977·Pediatric Radiology·K KozlowskiJ Harrington
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Feb 1, 1985·American Journal of Medical Genetics·T G BrewsterD L Rimoin
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Citations

Jan 1, 1992·Pediatric Radiology·P W Gendall, K Kozlowski
Apr 1, 1993·Journal of Medical Genetics·S E Holder, R M Winter
Jun 9, 2006·International Journal of Paediatric Dentistry·P BatraM L Calvert
Apr 14, 2007·American Journal of Medical Genetics. Part a·Adrián Mariño-EnríquezJosé I Rodríguez
Feb 18, 2011·Genesis : the Journal of Genetics and Development·Pilar Cejudo-Martin, Sara A Courtneidge
Sep 25, 2015·Clinical Case Reports·Ali Al KaissiRudolf Ganger
Feb 15, 1993·American Journal of Medical Genetics·K YoungD D Weaver
Jun 15, 2004·Clinical Dysmorphology·Stephen P Robertson
Mar 1, 1994·Clinical Genetics·S PreisF Majewski

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