Literature DB >> 2750787

Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation.

M Tsukahara1, Y Azuno, T Kajii.   

Abstract

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Year:  1989        PMID： 2750787     DOI： 10.1002/ajmg.1320330103

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  3 in total

1.  The Ohdo blepharophimosis syndrome: a third case.

Authors:  L G Biesecker
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles.

Authors:  C M Armour; D E Bulman; A G Hunter
Journal:  J Med Genet       Date:  2000-04       Impact factor: 6.318

3.  Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Authors:  Ashley M Byrnes; Lemuel Racacho; Allison Grimsey; Louanne Hudgins; Andrea C Kwan; Michel Sangalli; Alexa Kidd; Yuval Yaron; Yu-Lung Lau; Sarah M Nikkel; Dennis E Bulman
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246
  3 in total

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