A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

doi:10.1038/ejhg.2015.91

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Article

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

European journal of human genetics : EJHG - 1 Feb 2016

Tham Emma, Eklund Erik A, Hammarsjö Anna, Bengtson Per, Geiberger Stefan, Lagerstedt-Robinson Kristina, Malmgren Helena, Nilsson Daniel, Grigelionis Gintautas, Conner Peter, Lindgren Peter, Lindstrand Anna, Wedell Anna, Albåge Margareta, Zielinska Katarzyna, Nordgren Ann, Papadogiannakis Nikos, Nishimura Gen, Grigelioniene Giedre

Abstract excerpt

A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gillessen-Kaesbach et al and subsequently by Nishimura et al. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. We studied two unrelated families including three affected fetuses...

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Identifiers

PMID: 25966638
DOI: 10.1038/ejhg.2015.91
PMCID: PMC4717212

Genes

ALG9
ALG12
ALG3

Provenance

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