A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival

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Item Type:	Letter
Title:	A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival
Creators Name:	Moosa, S., Fano, V., Obregon, M.G., Altmüller, J., Thiele, H., Nürnberg, P., Nishimura, G. and Wollnik, B.
Keywords:	Founder Effect, Growth Disorders, Hernia, Homozygote, Joint Instability, Mitochondrial Precursor Protein Import Complex Proteins, Mitochondrial Proteins, Multiple Abnormalities, Mutation, Phenotype, Psychomotor Disorders, Survival Analysis
Source:	American Journal of Medical Genetics Part A
ISSN:	1552-4825
Publisher:	Wiley
Volume:	170
Number:	9
Page Range:	2436-2439
Date:	September 2016
Official Publication:	https://doi.org/10.1002/ajmg.a.37823
PubMed:	View item in PubMed

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