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A boy with severe manifestations of type A1 brachydactyly.
Clin Dysmorphol. 1998 Jan; 7(1):21-7.CD

Abstract

We describe a male with type A1 brachydactyly, a descendant of Drinkwaters second family. In addition to absence of the middle phalanges of his hands and feet he has generalised skeletal abnormalities, nystagmus and a squint. We suggest that his clinical findings represent the more severe manifestations of this autosomal dominant gene.

Authors+Show Affiliations

Department of Clinical Genetics, St Marys Hospital, Manchester, UK.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9546826

Citation

Slavotinek, A, and D Donnai. "A Boy With Severe Manifestations of Type A1 Brachydactyly." Clinical Dysmorphology, vol. 7, no. 1, 1998, pp. 21-7.
Slavotinek A, Donnai D. A boy with severe manifestations of type A1 brachydactyly. Clin Dysmorphol. 1998;7(1):21-7.
Slavotinek, A., & Donnai, D. (1998). A boy with severe manifestations of type A1 brachydactyly. Clinical Dysmorphology, 7(1), 21-7.
Slavotinek A, Donnai D. A Boy With Severe Manifestations of Type A1 Brachydactyly. Clin Dysmorphol. 1998;7(1):21-7. PubMed PMID: 9546826.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A boy with severe manifestations of type A1 brachydactyly. AU - Slavotinek,A, AU - Donnai,D, PY - 1998/4/18/pubmed PY - 1998/4/18/medline PY - 1998/4/18/entrez SP - 21 EP - 7 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 7 IS - 1 N2 - We describe a male with type A1 brachydactyly, a descendant of Drinkwaters second family. In addition to absence of the middle phalanges of his hands and feet he has generalised skeletal abnormalities, nystagmus and a squint. We suggest that his clinical findings represent the more severe manifestations of this autosomal dominant gene. SN - 0962-8827 UR - https://wwww.unboundmedicine.com/medline/citation/9546826/A_boy_with_severe_manifestations_of_type_A1_brachydactyly_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=9546826.ui DB - PRIME DP - Unbound Medicine ER -