A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

Full text not available from this repository.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Human Genetics
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic, Interventional and Paediatric Radiology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Neonatology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Gynaecology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Paediatric Pneumology

UniBE Contributor:

Oestreich, Marc-Alexander Heinz, Keller, Fabian, Bovermann, Xenia Ursula, Braun, Dominique, Schiller, Rike, Raio, Luigi, Zweier, Christiane Gertrud, Casaulta, Carmen, Kidszun, André, Popa-Todirenchi, Mircea-Horia

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1439-3824

Publisher:

Thieme

Language:

English

Submitter:

Pubmed Import

Date Deposited:

16 Jan 2024 13:20

Last Modified:

04 Mar 2024 13:33

Publisher DOI:

10.1055/a-2235-6201

PubMed ID:

38224688

URI:

https://boris.unibe.ch/id/eprint/191652

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