Intrafamilial clinical variability in type C brachydactyly

Genetic Counseling

Volumn 12, Issue 4, 2001, Pages 353-358

  Debeer, Ph ^a   De Smet, L ^a   Fryns, J P ^a  

^a CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

Autosomal dominant inheritance; Brachydactyly type C; Hand malformation; Hyperphalangism

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BRACHYDACTYLY; CASE REPORT; CHILD; CLINICAL OBSERVATION; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; MALE; SYNDROME DELINEATION;

GENES, DOMINANT; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MUTATION; PEDIGREE;

EID: 0035683755     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. On brachydactyly and symphalangism
2. Pitfalls of genetic counselling in brachydactyly type C
3. Brachydactyly type C of Bell
4. Hereditary abnormal segmentation of the index and middle fingers
5. Brachydactyly C, short stature, and hip dysplasia
6. Inherited brachydactyly and hypoplasia of the bones of the extremities
7. Mutations in CDMP1 cause autosomal dominant brachydactyly type C
8. Brachydactyly type C gene maps to human chromsome 12q24
9. Epiphyseal dysostosis without dwarfism
10. Clinical and locus heterogeneity in brachydactyly type C
11. Hereditary brachydactyly and hip disease. Unusual radiological and dermatoglyphic findings in a kindred
12. Type C brachydactyly transmitted through four generations
13. Epiphyseal dysostosis
14. Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily
15. Hands and Feet