Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
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Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis.ECEL1mutation causes fetal arthrogryposis multiplex congenita
P2860
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 19 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
@en
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
@nl
type
label
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
@en
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
@nl
prefLabel
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
@en
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
@nl
P2093
P2860
P356
P1433
P1476
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
@en
P2093
C Yildirim
N A Akarsu
P2860
P304
P356
10.1111/CGE.12224
P577
2013-07-19T00:00:00Z