Daughter and her mildly affected father with Keipert syndrome.Am J Med Genet A. 2006 Nov 15; 140(22):2488-92.AJ
Abstract
A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
17036315
Citation
Dumic, Miroslav, et al. "Daughter and Her Mildly Affected Father With Keipert Syndrome." American Journal of Medical Genetics. Part A, vol. 140, no. 22, 2006, pp. 2488-92.
Dumic M, Kokic DD, Matic T, et al. Daughter and her mildly affected father with Keipert syndrome. Am J Med Genet A. 2006;140(22):2488-92.
Dumic, M., Kokic, D. D., Matic, T., & Potocki, K. (2006). Daughter and her mildly affected father with Keipert syndrome. American Journal of Medical Genetics. Part A, 140(22), 2488-92.
Dumic M, et al. Daughter and Her Mildly Affected Father With Keipert Syndrome. Am J Med Genet A. 2006 Nov 15;140(22):2488-92. PubMed PMID: 17036315.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Daughter and her mildly affected father with Keipert syndrome.
AU - Dumic,Miroslav,
AU - Kokic,Durda Dovzak,
AU - Matic,Toni,
AU - Potocki,Kristina,
PY - 2006/10/13/pubmed
PY - 2007/1/16/medline
PY - 2006/10/13/entrez
SP - 2488
EP - 92
JF - American journal of medical genetics. Part A
JO - Am J Med Genet A
VL - 140
IS - 22
N2 - A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance.
SN - 1552-4825
UR - https://www.unboundmedicine.com/medline/citation/17036315/Daughter_and_her_mildly_affected_father_with_Keipert_syndrome_
L2 - https://doi.org/10.1002/ajmg.a.31489
DB - PRIME
DP - Unbound Medicine
ER -