Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child

Author:

Harris Richard E.,Baehner Robert L.,Gleiser Sonia,Weaver David D.,Hodes M. E.,Opitz John M.

Publisher

Wiley

Subject

Genetics(clinical)

Reference23 articles.

1. : Mendelian Inheritance in Man. Baltimore: Johns Hopkins, entry 25025, 5th edition, 1978.

2. Chronic Neutropenia and Abnormal Cellular Immunity in Cartilage-Hair Hypoplasia

3. : Cartilage-hair hypoplasia with combined immune deficiency: Variable expression and development of immunologic functions in siblings. Birth Defects Meetings, 1977 (Abstr.).

4. Severe Combined Immunodeficiency with Cartilage-Hair Hypoplasia: In Vitro Response to Thymosin and Attempted Reconstitution

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1. Immunodeficiency, Leukemia, and Lymphoma;Interdisciplinary Cancer Research;2022

2. Cartilage hair hypoplasia: characteristics and orthopaedic manifestations;Journal of Children's Orthopaedics;2015-04-01

3. Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review;Journal of Pediatrics Review;2015-01-20

4. Immunologic and clinical features of 25 Amish patients with RMRP 70 A→G cartilage hair hypoplasia;Clinical Immunology;2009-04

5. M;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

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