about
Marfanoid habitus is a nonspecific feature of Perrault syndrome.Genetics of mitochondrial dysfunction and infertility.Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.Expanding the genotypic spectrum of Perrault syndrome.A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects
P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
L A M Demain
@en
L A M Demain
@nl
type
label
L A M Demain
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L A M Demain
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prefLabel
L A M Demain
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L A M Demain
@nl
P31
P496
0000-0001-8694-7710