Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X‐linked microcephalic intellectual deficit-Reference-Cited by-同舟云学术

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X‐linked microcephalic intellectual deficit

Published:2013-03 Issue:3 Volume:83 Page:288-290
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ariani F¹,Mari F¹²,Amitrano S¹,Di Marco C¹,Artuso R¹,Scala E¹,Meloni I¹,Della Volpe R³,Rossi A³,Bokhoven H⁴,Renieri A¹²

Affiliation:

1. Medical Genetics University of Siena Siena Italy

2. Genetica Medica Azienda Ospedaliera Universitaria Senese Siena Italy

3. Clinical Neurophysiology, Department of Neurological, Neurosurgical and Behavioral Sciences University of Siena Italy

4. Department of Human Genetics, Nijmegen Center for Molecular Life Sciences (NCMLS) & Donders Institute for Brain Cognition and Behaviour, Radboud University Nijmegen Medical Centre Nijmegen The Netherlands

Funder

Telethon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2012.01901.x

Reference5 articles.

1. The Italian XLMR bank: a clinical and molecular database

2. Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

3. Primary microcephaly: do all roads lead to Rome?

4. ASPM is a major determinant of cerebral cortical size

5. Compound heterozygous ASPM mutations in Pakistani MCPH families

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2. Autosomal Recessive Primary Microcephaly: Not Just a Small Brain;Frontiers in Cell and Developmental Biology;2022-01-17

3. Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene;Molecular Syndromology;2021-09-15

4. Impact of DAT-SPECT on Management of Patients Suspected of Parkinsonism;Clinical Nuclear Medicine;2018-10

5. Autosomal recessive primary microcephaly due to ASPM mutations: An update;Human Mutation;2018-01-16