Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.

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Bibliographic Details
Title: Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.
Authors: Maass JG; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Kamionek D; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Mantilleri A; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France., Theiss S; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Dötsch L; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Franke F; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Schubert T; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Scheck JG; Neuroradiology Department, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Clinical Cooperation Unit Translational Radiation Oncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany., Pitzer C; Interdisciplinary Neurobehavioral Core, Heidelberg University, 69120 Heidelberg, Germany., Piovani P; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France., Bertacchi M; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France., Deschaux O; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France., Singh A; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Chen CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Fröhlich H; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Studer M; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France., Schaaf CP; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.
Source: Disease models & mechanisms [Dis Model Mech] 2025 Oct 01; Vol. 18 (10). Date of Electronic Publication: 2025 Sep 22.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1754-8411
DOI:10.1242/dmm.052426