Literature DB >> 9777339

The Catel-Manzke syndrome in a female infant.

S G Kant1, A Oudshoorn, C V Gi, H M Zonderland, A Van Haeringen.   

Abstract

Catel-Manzke syndrome in a female infant: We describe a girl with typical features of the Catel-Manzke syndrome. Although most cases described are boys, X-linked inheritance is not very likely now at least four females with this syndrome have been described.

Entities:  

Mesh：

Year:  1998        PMID： 9777339

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  2 in total

1.  Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Authors:  Nadja Ehmke; Almuth Caliebe; Rainer Koenig; Sarina G Kant; Zornitza Stark; Valérie Cormier-Daire; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Kirstin Hoff; Amit Kawalia; Holger Thiele; Janine Altmüller; Björn Fischer-Zirnsak; Alexej Knaus; Na Zhu; Verena Heinrich; Celine Huber; Izabela Harabula; Malte Spielmann; Denise Horn; Uwe Kornak; Jochen Hecht; Peter M Krawitz; Peter Nürnberg; Reiner Siebert; Hermann Manzke; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2014-12-04       Impact factor: 11.025

2.  Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.

Authors:  Rachel Pferdehirt; Mahim Jain; Maria A Blazo; Brendan Lee; Lindsay C Burrage
Journal:  Mol Genet Metab Rep       Date:  2015-09-01
  2 in total

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