Literature DB >> 953230

Studies of malformation syndromes in man XXXXII: a pleiotropic dominant mutation affecting skeletal, sexual and apocrine-mammary development.

P D Pallister, J Herrmann, J M Opitz.   

Abstract

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Year:  1976        PMID: 953230

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


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  4 in total

1.  Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister.

Authors:  C H Gonzalez; J Herrmann; J M Opitz
Journal:  Eur J Pediatr       Date:  1976-11-03       Impact factor: 3.183

2.  Ulnar-mammary syndrome.

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1987-12       Impact factor: 6.318

3.  T-box3 is a ciliary protein and regulates stability of the Gli3 transcription factor to control digit number.

Authors:  Uchenna Emechebe; Pavan Kumar P; Julian M Rozenberg; Bryn Moore; Ashley Firment; Tooraj Mirshahi; Anne M Moon
Journal:  Elife       Date:  2016-04-05       Impact factor: 8.140

4.  Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes.

Authors:  Katarzyna Iwanicka-Pronicka; Magdalena Socha; Maria Jędrzejowska; Małgorzata Krajewska-Walasek; Aleksander Jamsheer
Journal:  Springerplus       Date:  2016-09-21
  4 in total

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