Results 1 -
10
of
14
for
Autosomal dominant robin syndrome 3
- ... Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997 Mar;15(3):266-8. doi: 10.1038/ng0397-266. Citation ...
- ... Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997 Mar;15(3):266-8. doi: 10.1038/ng0397-266. Citation ...
- ... 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia. Eur J Hum Genet. 2019 Mar;27(3):369-377. doi: 10.1038/s41431-018-0316- ...
- ... been found in people with a disorder called autosomal dominant retinal ... function of the three prime repair exonuclease 1 enzyme may cause immune ...
- ... When the condition is inherited, it follows an autosomal dominant pattern, which means one copy of the DNA ... Genetic ...
- ... chromosome 22 The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome ... members may be affected as well. 22q11.2DS Autosomal dominant Opitz G/BBB syndrome CATCH22 Cayler cardiofacial syndrome Conotruncal anomaly face syndrome ( ...
- ... the signs and symptoms of Opitz G/BBB syndrome.Autosomal dominant Opitz G/BBB syndrome is caused by changes ... of Opitz G/BBB syndrome.In other people, autosomal dominant Opitz/GBBB syndrome is caused by a mutation in the SPECC1L ...
- Genetic Disorders/Specifics ... Genetic Disorders ... Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic and Rare Diseases Information Center ...
- Guide to Understanding Pfeiffer Syndrome (Children's Craniofacial Association) - PDFCraniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Children's Craniofacial Association ... PDF
- ... is thought to underlie the features of BCD syndrome. CDH1 CTNND1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
(Genetic and Rare Diseases Information Center) 