Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family.Am J Med Genet. 1987 Oct; 28(2):471-5.AJ
Abstract
We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrome and suggest existence of an autosomal or X-linked recessive form of this syndrome.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
3425620
Citation
Wang, T R., and S J. Lin. "Further Evidence for Genetic Heterogeneity of Whistling Face or Freeman-Sheldon Syndrome in a Chinese Family." American Journal of Medical Genetics, vol. 28, no. 2, 1987, pp. 471-5.
Wang TR, Lin SJ. Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family. Am J Med Genet. 1987;28(2):471-5.
Wang, T. R., & Lin, S. J. (1987). Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family. American Journal of Medical Genetics, 28(2), 471-5.
Wang TR, Lin SJ. Further Evidence for Genetic Heterogeneity of Whistling Face or Freeman-Sheldon Syndrome in a Chinese Family. Am J Med Genet. 1987;28(2):471-5. PubMed PMID: 3425620.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family.
AU - Wang,T R,
AU - Lin,S J,
PY - 1987/10/1/pubmed
PY - 1987/10/1/medline
PY - 1987/10/1/entrez
SP - 471
EP - 5
JF - American journal of medical genetics
JO - Am J Med Genet
VL - 28
IS - 2
N2 - We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrome and suggest existence of an autosomal or X-linked recessive form of this syndrome.
SN - 0148-7299
UR - https://www.unboundmedicine.com/medline/citation/3425620/Further_evidence_for_genetic_heterogeneity_of_whistling_face_or_Freeman_Sheldon_syndrome_in_a_Chinese_family_
L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1987&volume=28&issue=2&spage=471
DB - PRIME
DP - Unbound Medicine
ER -