L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains-Reference-Cited by-同舟云学术

L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains

Author:

Christaller W. A. A.¹,Vos Y.²,Gebre-Medhin S.³,Hofstra R. M. W.⁴,Schäfer M. K. E.¹⁵

Affiliation:

1. Department of Anesthesiology, University Medical Center; Johannes Gutenberg-University Mainz; Mainz Germany

2. Department of Genetics, University Medical Centre Groningen; University of Groningen; Groningen The Netherlands

3. Department of Clinical Genetics; University Hospital, Lund University; Lund Sweden

4. Department of Clinical Genetics; University of Rotterdam; Rotterdam The Netherlands

5. Focus program Translational Neurosciences (FTN); Johannes Gutenberg-University Mainz; Mainz Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

Reference17 articles.

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3. Hirschsprung disease;Nature Reviews Disease Primers;2023-10-12