Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein | Zendy

Andrew Dauber | Zendy; Stephen LaFranchi | Zendy; Zoltan Maliga | Zendy; Julian C. Lui | Zendy; Jennifer Moon | Zendy; Cailin McDeed | Zendy; Katrin Henke | Zendy; Jonathan Zonana | Zendy; Garrett A. Roberts Kingman | Zendy; Tune H. Pers | Zendy; Jeffrey Baron | Zendy; Ron G. Rosenfeld | Zendy; Joel N. Hirschhorn | Zendy; Matthew P. Harris | Zendy; Vivian Hwa | Zendy

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Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein

Author(s) -

Andrew Dauber,

Stephen LaFranchi,

Zoltan Maliga,

Julian C. Lui,

Jennifer Moon,

Cailin McDeed,

Katrin Henke,

Jonathan Zonana,

Garrett A. Roberts Kingman,

Tune H. Pers,

Jeffrey Baron,

Ron G. Rosenfeld,

Joel N. Hirschhorn,

Matthew P. Harris,

Vivian Hwa

Publication year - 2012

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2012-2150

Subject(s) - biology , zebrafish , microcephaly , exome sequencing , genetics , phenotype , gene knockdown , morpholino , candidate gene , missense mutation , copy number variation , gene , genome

Microcephalic primordial dwarfism (MPD) is a rare, severe form of human growth failure in which growth restriction is evident in utero and continues into postnatal life. Single causative gene defects have been identified in a number of patients with MPD, and all involve genes fundamental to cellular processes including centrosome functions.

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