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Pernille Toerring

Odense University Hospital

J. B. Winsløws Vej 4

Odense

Denmark

SCHOLARLY PAPERS

1

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79

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0

Scholarly Papers (1)

1.

A Genotype-First Approach in Individuals with Variable Intellectual Disability Permits BRWD3 Mutations’ Diagnosis

Number of pages: 13 Posted: 22 Jul 2022
University of Dijon - Reference center “Intellectual disabilities from rare causes”, affiliation not provided to SSRN, affiliation not provided to SSRN, Mayo Clinic, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Johns Hopkins University - Kennedy Krieger Institute, Johns Hopkins University - Kennedy Krieger Institute, affiliation not provided to SSRN, affiliation not provided to SSRN, Odense University Hospital, Odense University Hospital, McGill University - McGill University Health Centre, affiliation not provided to SSRN, affiliation not provided to SSRN, Odense University Hospital, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN and University of Dijon - Reference center “Intellectual disabilities from rare causes”
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Abstract:

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BRWD3, Intellectual disability, macrocephaly, obesity