Autosomal recessive form of whistling face syndrome in sibs.Am J Med Genet. 1989 Aug; 33(4):542-4.AJ
Abstract
Two sibs with the whistling face syndrome, born to unaffected parents, are presented. They had the full facial and limb manifestations typical of this disorder, for which there is evidence of autosomal dominant inheritance. The existence of an autosomal recessive form of this syndrome has been suspected previously on the basis of a limited number of observations. Our study substantiates genetic heterogeneity of this condition and suggests that the autosomal recessive form could be even less rare than is generally considered.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
2596515
Citation
Dallapiccola, B, et al. "Autosomal Recessive Form of Whistling Face Syndrome in Sibs." American Journal of Medical Genetics, vol. 33, no. 4, 1989, pp. 542-4.
Dallapiccola B, Giannotti A, Lembo A, et al. Autosomal recessive form of whistling face syndrome in sibs. Am J Med Genet. 1989;33(4):542-4.
Dallapiccola, B., Giannotti, A., Lembo, A., & Saguì, L. (1989). Autosomal recessive form of whistling face syndrome in sibs. American Journal of Medical Genetics, 33(4), 542-4.
Dallapiccola B, et al. Autosomal Recessive Form of Whistling Face Syndrome in Sibs. Am J Med Genet. 1989;33(4):542-4. PubMed PMID: 2596515.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Autosomal recessive form of whistling face syndrome in sibs.
AU - Dallapiccola,B,
AU - Giannotti,A,
AU - Lembo,A,
AU - Saguì,L,
PY - 1989/8/1/pubmed
PY - 1989/8/1/medline
PY - 1989/8/1/entrez
SP - 542
EP - 4
JF - American journal of medical genetics
JO - Am J Med Genet
VL - 33
IS - 4
N2 - Two sibs with the whistling face syndrome, born to unaffected parents, are presented. They had the full facial and limb manifestations typical of this disorder, for which there is evidence of autosomal dominant inheritance. The existence of an autosomal recessive form of this syndrome has been suspected previously on the basis of a limited number of observations. Our study substantiates genetic heterogeneity of this condition and suggests that the autosomal recessive form could be even less rare than is generally considered.
SN - 0148-7299
UR - https://www.unboundmedicine.com/medline/citation/2596515/Autosomal_recessive_form_of_whistling_face_syndrome_in_sibs_
L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=33&issue=4&spage=542
DB - PRIME
DP - Unbound Medicine
ER -