Literature DB >> 14108025

METAPHYSEAL DYSOSTOSIS AND THIN HAIR: A "NEW" RECESSIVELY INHERITED SYNDROME?

V A MCKUSICK.   

Abstract

Entities:  

Keywords:  BONE DISEASES; CHILD; DWARFISM; GENETICS, HUMAN; PENNSYLVANIA

Mesh：

Year:  1964        PMID： 14108025     DOI： 10.1016/s0140-6736(64)93029-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  15 in total

Review 1.  Primary T-lymphocyte immunodeficiencies.

Authors:  A Fischer
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 8.667

Review 2.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

3.  Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

Authors:  O Mäkitie
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

4.  Cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2.

Authors:  L Yel; S Aggarwal; S Gupta
Journal:  J Clin Immunol       Date:  1999-11       Impact factor: 8.317

5.  Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.

Authors:  Imane Cherkaoui Jaouad; Fatima Z Laarabi; Siham Chafai Elalaoui; Stanislas Lyonnet; Alexandra Henrion-Caude; Abdelaziz Sefiani
Journal:  Mol Syndromol       Date:  2015-06-11

6.  Overlap syndrome: a diagnostic dilemma.

Authors:  Kaushal Mahendra Shah; Sampada Kanitkar
Journal:  BMJ Case Rep       Date:  2012-11-27

Review 7.  Orthopaedic aspects of the chondrodystrophies. The dwarf and his orthopaedic problems.

Authors:  M A Nelson
Journal:  Ann R Coll Surg Engl       Date:  1970-10       Impact factor: 1.891

8.  Cartilage hair hypoplasia.

Authors:  C B Boothby; B D Bower
Journal:  Arch Dis Child       Date:  1973-11       Impact factor: 3.791

9.  Metaphyseal dysostosis type Schmid.

Authors:  S B Dimson
Journal:  Proc R Soc Med       Date:  1968-12-12

Review 10.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123
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