Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference20 articles.
1. Child with oral, facial, digital, and skeletal anomalies and psychomotor delay: A new OFDS form?;Gabrielli;Am J Med Genet,1994
2. Mild phenotype in a 15 years old boy with Pallister-Killian syndrome;Genevieve;Am J Med Genet,2003
3. Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p);Graham;Arch Ophthalmol,1999
4. Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII);Gurrieri;Am J Med Genet,1992
5. Oral-facial-digital syndrome and retinal abnormalities with autosomal recessive inheritance;Jamieson;Am J Med Genet,1993
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2. Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p;American Journal of Medical Genetics Part A;2009-03
3. Pallister-Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome;Clinical Genetics;2007-09-25
4. Dermatologic Features in Pallister?Killian Syndrome and their Importance to the Diagnosis;Pediatric Dermatology;2007-07
5. Genetic considerations in recurrent congenital diaphragmatic hernia in two siblings;Annals of Saudi Medicine;2006-09
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