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Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
Am J Med Genet. 1985 Jun; 21(2):317-24.AJ

Abstract

We report on two sibs born to consanguineous parents with clinical and radiological features closely resembling those previously described by Insley and Astley [1974]. This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of Marshall syndrome, deafness, and skeletal dysplasia.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

4014313

Citation

Miny, P, and W Lenz. "Autosomal Recessive Deafness With Skeletal Dysplasia and Facial Appearance of Marshall Syndrome." American Journal of Medical Genetics, vol. 21, no. 2, 1985, pp. 317-24.
Miny P, Lenz W. Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. Am J Med Genet. 1985;21(2):317-24.
Miny, P., & Lenz, W. (1985). Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. American Journal of Medical Genetics, 21(2), 317-24.
Miny P, Lenz W. Autosomal Recessive Deafness With Skeletal Dysplasia and Facial Appearance of Marshall Syndrome. Am J Med Genet. 1985;21(2):317-24. PubMed PMID: 4014313.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. AU - Miny,P, AU - Lenz,W, PY - 1985/6/1/pubmed PY - 1985/6/1/medline PY - 1985/6/1/entrez SP - 317 EP - 24 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 21 IS - 2 N2 - We report on two sibs born to consanguineous parents with clinical and radiological features closely resembling those previously described by Insley and Astley [1974]. This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of Marshall syndrome, deafness, and skeletal dysplasia. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/4014313/Autosomal_recessive_deafness_with_skeletal_dysplasia_and_facial_appearance_of_Marshall_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1985&volume=21&issue=2&spage=317 DB - PRIME DP - Unbound Medicine ER -