Literature DB >> 6580385

Syndrome identification case report 92: Hirschsprung megacolon, cleft lip and palate, mental retardation, and minor congenital malformations.

D Brunoni, R Joffe, L M Farah, A J Cunha.   

Abstract

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Mesh：

Year:  1983        PMID： 6580385

Source DB:  PubMed          Journal:  J Clin Dysmorphol        ISSN： 0736-4407


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  3 in total

1.  Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

Authors:  D R Mowat; G D Croaker; D T Cass; B A Kerr; J Chaitow; L C Adès; N L Chia; M J Wilson
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

Review 2.  Mowat-Wilson syndrome.

Authors:  D R Mowat; M J Wilson; M Goossens
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

3.  Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

Authors:  Katherine C MacKenzie; Bianca M de Graaf; Andreas Syrimis; Yuying Zhao; Erwin Brosens; Grazia M S Mancini; Rachel Schot; Dicky Halley; Martina Wilke; Arve Vøllo; Frances Flinter; Andrew Green; Sahar Mansour; Jacek Pilch; Zornitza Stark; Eleni Zamba-Papanicolaou; Violetta Christophidou-Anastasiadou; Robert M W Hofstra; Jan D H Jongbloed; Nayia Nicolaou; George A Tanteles; Alice S Brooks; Maria M Alves
Journal:  Hum Mutat       Date:  2020-09-16       Impact factor: 4.878
  3 in total

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