THE SYNDROME OF MENTAL HANDICAP, CATARACTS, MUSCLE WASTING AND SKELETAL ABNORMALITIES: REPORT OF A SECOND CASE-Reference-Cited by-同舟云学术

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THE SYNDROME OF MENTAL HANDICAP, CATARACTS, MUSCLE WASTING AND SKELETAL ABNORMALITIES: REPORT OF A SECOND CASE

Published:2008-06-28 Issue:3 Volume:30 Page:301-308
ISSN:0964-2633
Container-title:Journal of Intellectual Disability Research
language:en
Short-container-title:

Author:

Collacott R. A.,O'Malley B. P.,Young I. D.

Publisher

Wiley

Subject

Psychiatry and Mental health,Clinical Neurology,Neurology,Arts and Humanities (miscellaneous),Rehabilitation

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2788.1986.tb01324.x/fullpdf

Reference10 articles.

1. Relapsing Polychondritis. Analytical literature review and studies on pathogenesis;Dolan;Amer. J. Med.,1966

2. Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome;Fryns;Eur. J. Pediat.,1984

3. A bone dysplasia with deafness;Insley;Brit. J. Radiol.,1974

4. Relapsing polychondritis;Johnson;Radiology,1973

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2. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature;American Journal of Medical Genetics Part A;2019-01-13

3. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies;American Journal of Medical Genetics Part A;2018-04-21

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