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New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence.
Am J Med Genet. 1989 Dec; 34(4):535-40.AJ

Abstract

Short-limb dwarfism is of heterogeneous origin and has various clinical manifestations. This communication describes a previously apparently unreported type of short-limb dwarfism in 3 affected sibs. Characteristics of this syndrome are bilateral absence of fibulae and severe abnormalities of all digits.

Authors+Show Affiliations

Institute of Medical Genetics, Edith Wolfson Medical Center, Holon, Israel.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2624264

Citation

Kohn, G, et al. "New Type of Autosomal Recessive Short-limb Dwarfism With Absent Fibulae, Exceptionally Short Digits, and Normal Intelligence." American Journal of Medical Genetics, vol. 34, no. 4, 1989, pp. 535-40.
Kohn G, Veder M, Schoenfeld A, et al. New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence. Am J Med Genet. 1989;34(4):535-40.
Kohn, G., Veder, M., Schoenfeld, A., & el Shawwa, R. (1989). New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence. American Journal of Medical Genetics, 34(4), 535-40.
Kohn G, et al. New Type of Autosomal Recessive Short-limb Dwarfism With Absent Fibulae, Exceptionally Short Digits, and Normal Intelligence. Am J Med Genet. 1989;34(4):535-40. PubMed PMID: 2624264.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence. AU - Kohn,G, AU - Veder,M, AU - Schoenfeld,A, AU - el Shawwa,R, PY - 1989/12/1/pubmed PY - 1989/12/1/medline PY - 1989/12/1/entrez SP - 535 EP - 40 JF - American journal of medical genetics JO - Am J Med Genet VL - 34 IS - 4 N2 - Short-limb dwarfism is of heterogeneous origin and has various clinical manifestations. This communication describes a previously apparently unreported type of short-limb dwarfism in 3 affected sibs. Characteristics of this syndrome are bilateral absence of fibulae and severe abnormalities of all digits. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/2624264/New_type_of_autosomal_recessive_short_limb_dwarfism_with_absent_fibulae_exceptionally_short_digits_and_normal_intelligence_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=34&issue=4&spage=535 DB - PRIME DP - Unbound Medicine ER -