Mia Olsson Engman
Overview
Explore the profile of Mia Olsson Engman including associated specialties, affiliations and a list of published articles.
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Articles
2
Citations
30
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0
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Recent Articles
1.
Regal L, Martensson E, Maystadt I, Voermans N, Lederer D, Burlina A, et al.
Genet Med
. 2017 Jul;
20(1):109-118.
PMID: 28726805
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1...
2.
Hedberg-Oldfors C, Darin N, Olsson Engman M, Orfanos Z, Thomsen C, van der Ven P, et al.
Eur J Hum Genet
. 2016 Aug;
24(12):1771-1777.
PMID: 27485408
We describe a new early-onset neuromuscular disorder due to a homozygous loss-of-function variant in the kyphoscoliosis peptidase gene (KY). A 7.5-year-old girl with walking difficulties from 2 years of age...