Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

Journal article

Peer reviewed

Anne B. Kroigard, Andrew P. Jackson, Louise S. Bicknell, Emma Baple, Klaus Brusgaard, Lars K. Hansen and Lilian B. Ousager

Clinical dysmorphology, Vol.25(2), pp.68-72

01/04/2016

Handle:

https://hdl.handle.net/10523/37070

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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Record Identifier: 9926529281601891
Title: Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1
Creators: Anne B. Kroigard
Andrew P. Jackson
Louise S. Bicknell
Emma Baple
Klaus Brusgaard
Lars K. Hansen
Lilian B. Ousager
Publication Details: Clinical dysmorphology, Vol.25(2), pp.68-72
Academic Unit: Biochemistry
Publisher: Lippincott Williams & Wilkins
Grant note: G1001931; MC_PC_U127580972 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC); European Commission G1001931 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC)
Date published ; e-published: 01/04/2016
Language: English
Resource Type ; Subtype: Journal article