NDLI: Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual

Content Provider	Scilit
Author	Sobetzko, Diana Eich, Georg Kalff-Suske, Martha Grzeschik, Karl-Heinz Superti-Furga, Andrea
Copyright Year	2000
Description	Journal: American Journal of Medical Genetics
Related Links	https://onlinelibrary.wiley.com/doi/pdf/10.1002/(SICI)1096-8628(20000131)90:3<239::AID-AJMG10>3.0.CO;2-O
Ending Page	242
Page Count	4
Starting Page	239
ISSN	01487299
e-ISSN	10968628
DOI	10.1002/%28sici%291096-8628%2820000131%2990%3A3%3C239%3A%3Aaid-ajmg10%3E3.3.co%3B2-f
Journal	American Journal of Medical Genetics
Issue Number	3
Volume Number	90
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2000-01-31
Access Restriction	Open
Subject Keyword	Journal: American Journal of Medical Genetics Pediatrics and Child Health Greig Cephalopolysyndactyly Syndrome Congenital Spondyloepiphyseal Dysplasia Two Dominant Disorders
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical)

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Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual