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Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients.
Hum Genet. 1977 Nov 02; 39(1):15-25.HG

Abstract

Five new casses of ectrodactyly are described. Two patients have the syndrome of ectrodactyly, extodermal dysplasia, and clefting (EEC). In one patient with the EEC syndrome, the disorder seems to represent a new mutation. One woman with isolated ectrodactyly has a daughter with the EEC syndrome. The variation in the clinical expression of this disorder among affected members of the same family makes it difficult to determine whether there may be several mutant alleles responsible for ectrodactyly and its related manifestations.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

924443

Citation

Schmidt, R, and H M. Nitowsky. "Split Hand and Food Deformity and the Syndrome of Ectrodactyly, Ectodermal Dysplasia, and Clefting (EEC). a Report of Five Patients." Human Genetics, vol. 39, no. 1, 1977, pp. 15-25.
Schmidt R, Nitowsky HM. Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients. Hum Genet. 1977;39(1):15-25.
Schmidt, R., & Nitowsky, H. M. (1977). Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients. Human Genetics, 39(1), 15-25.
Schmidt R, Nitowsky HM. Split Hand and Food Deformity and the Syndrome of Ectrodactyly, Ectodermal Dysplasia, and Clefting (EEC). a Report of Five Patients. Hum Genet. 1977 Nov 2;39(1):15-25. PubMed PMID: 924443.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients. AU - Schmidt,R, AU - Nitowsky,H M, PY - 1977/11/2/pubmed PY - 1977/11/2/medline PY - 1977/11/2/entrez SP - 15 EP - 25 JF - Human genetics JO - Hum Genet VL - 39 IS - 1 N2 - Five new casses of ectrodactyly are described. Two patients have the syndrome of ectrodactyly, extodermal dysplasia, and clefting (EEC). In one patient with the EEC syndrome, the disorder seems to represent a new mutation. One woman with isolated ectrodactyly has a daughter with the EEC syndrome. The variation in the clinical expression of this disorder among affected members of the same family makes it difficult to determine whether there may be several mutant alleles responsible for ectrodactyly and its related manifestations. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/924443/Split_hand_and_food_deformity_and_the_syndrome_of_ectrodactyly_ectodermal_dysplasia_and_clefting__EEC___A_report_of_five_patients_ L2 - http://www.diseaseinfosearch.org/result/2437 DB - PRIME DP - Unbound Medicine ER -