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Association of ectrodactyly and distal phocomelia.
Genet Couns. 2002; 13(3):319-25.GC

Abstract

Ectrodactyly and phocomelia are well known limbs malformations. They can be a part of various syndromes, and are more often transmitted with dominant autosomal Inheritance with variable expression and Incomplete penetrance. Different loci have been Identified for ectrodactyly (SHFM1 at 7q21.3q22.1, SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27), and two genes are known (DSS1 for SHFM1, p63 for SHFM4). We report the case of a 33 year-old female affected with the association of ectrodactyly and phocomelia. It could be a "new" association, or a mild or partial expression of the syndrome Including ectrodactyly, phocomelia, deafness and sinusal arythmia.

Authors+Show Affiliations

Delrue MA
Department of Medical Genetics, Pellegrin-Children's Hospital, Bordeaux, France.
Lacombe D
No affiliation info available

MeSH

Abnormalities, MultipleAdultChildEctodermal DysplasiaEctromeliaFemaleFingersGenes, DominantHand Deformities, CongenitalHumans

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12416640

Citation

Delrue, M A., and D Lacombe. "Association of Ectrodactyly and Distal Phocomelia." Genetic Counseling (Geneva, Switzerland), vol. 13, no. 3, 2002, pp. 319-25.
Delrue MA, Lacombe D. Association of ectrodactyly and distal phocomelia. Genet Couns. 2002;13(3):319-25.
Delrue, M. A., & Lacombe, D. (2002). Association of ectrodactyly and distal phocomelia. Genetic Counseling (Geneva, Switzerland), 13(3), 319-25.
Delrue MA, Lacombe D. Association of Ectrodactyly and Distal Phocomelia. Genet Couns. 2002;13(3):319-25. PubMed PMID: 12416640.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of ectrodactyly and distal phocomelia. AU - Delrue,M A, AU - Lacombe,D, PY - 2002/11/6/pubmed PY - 2003/2/14/medline PY - 2002/11/6/entrez SP - 319 EP - 25 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 13 IS - 3 N2 - Ectrodactyly and phocomelia are well known limbs malformations. They can be a part of various syndromes, and are more often transmitted with dominant autosomal Inheritance with variable expression and Incomplete penetrance. Different loci have been Identified for ectrodactyly (SHFM1 at 7q21.3q22.1, SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27), and two genes are known (DSS1 for SHFM1, p63 for SHFM4). We report the case of a 33 year-old female affected with the association of ectrodactyly and phocomelia. It could be a "new" association, or a mild or partial expression of the syndrome Including ectrodactyly, phocomelia, deafness and sinusal arythmia. SN - 1015-8146 UR - https://wwww.unboundmedicine.com/medline/citation/12416640/Association_of_ectrodactyly_and_distal_phocomelia_ DB - PRIME DP - Unbound Medicine ER -