Areeg H El-Gharbawy Joseph N Peeden Jr Ralph S Lachman John M Graham Jr Stephen R Moore David L Rimoin
10.1002/ajmg.a.33146
Am J Med Genet A
2010 Jan;152A(1):169-74.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/20014132/
Cleidocranial Dysplasia / genetics Core Binding Factor Alpha 1 Subunit / genetics Hypophosphatasia / genetics Sequence Deletion
Cleidocranial Dysplasia / genetics Core Binding Factor Alpha 1 Subunit / genetics Hypophosphatasia / genetics Sequence Deletion Case Reports Research Support, N.I.H., Extramural Child Humans Male Core Binding Factor Alpha 1 Subunit RUNX2 protein, human
PMC2799546
20014132
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2
2010