Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature-Reference-Cited by-同舟云学术

Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature

Published:2019-10 Issue:12 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Bellucco Fernanda T.¹,Mello Claudia B.²,Meloni Vera A.¹,Melaragno Maria Isabel¹^ORCID

Affiliation:

1. Department of Morphology and Genetics Universidade Federal de São Paulo São Paulo Brazil

2. Department of Psychobiology Universidade Federal de São Paulo São Paulo Brazil

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.997

Reference37 articles.

1. Achenbach T. M. &Resorta L. A.(2001).Manual for ASEBA school‐age forms and profiles. In Burlington VT: Research Center for Children Youth and Families University of Vermont.

2. Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 includingCACNA1Aassociated with mental retardation and epilepsy with infantile spasms

3. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

4. Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

5. A novel microdeletion/microduplication syndrome of 19p13.13

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