Now showing items 1-2 of 2
Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia
(Wiley Subscription Services, Inc., A Wiley Company, 1997-08-22)
Cleidocranial dysplasia (CCD) is an autosomal dominant, generalized skeletal dysplasia in humans that has been mapped to the short arm of chromosome 6. We report linkage of a CCD mutation to 6p21 in a large family and ...
Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies
(Wiley Subscription Services, Inc., A Wiley Company, 1997-08-08)
We describe a family segregating an autosomal dominant mutation producing a syndrome comprising microcephaly with normal intelligence and short palpebral fissures together with variable signs including thumb hypoplasia, ...