Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture ; volume:14 ; number:1 ; day:21 ; month:11 ; year:2019 ; pages:1-10 ; date:12.2019
Orphanet journal of rare diseases ; 14, Heft 1 (21.11.2019), 1-10, 12.2019

Creator: Li, Niu
Xu, Yufei
Zhang, Yi
Li, Guoqiang
Yu, Tingting
Yao, Ruen
Zhou, YunFang
Shen, Yiping
Yin, Lei
Wang, Xiumin
Wang, Jian

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13023-019-1241-z

URN: urn:nbn:de:101:1-2020031722194979932109

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:46 AM CEST

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Associated

Li, Niu
Xu, Yufei
Zhang, Yi
Li, Guoqiang
Yu, Tingting
Yao, Ruen
Zhou, YunFang
Shen, Yiping
Yin, Lei
Wang, Xiumin
Wang, Jian
SpringerLink (Online service)

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Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

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Other Objects (12)

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

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Severe late-onset multisystem cytomegalovirus infection in a premature neonate previously treated for congenital infection

Braun „Multisystem K 1000“

Braun „Multisystem K 1000“

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

Congenital herpes simplex with ophthalmic and multisystem features: a case report

Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function

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Severe late-onset multisystem cytomegalovirus infection in a premature neonate previously treated for congenital infection

Braun „Multisystem K 1000“

Braun „Multisystem K 1000“

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