A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability-Reference-Cited by-同舟云学术

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability

Published:2018-09-23 Issue:11 Volume:176 Page:2395-2403
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kashevarova Anna A.¹²^ORCID,Nazarenko Lyudmila P.¹³,Skryabin Nikolay A.¹²,Nikitina Tatiana V.¹,Vasilyev Stanislav A.¹²,Tolmacheva Ekaterina N.¹,Lopatkina Mariya E.¹,Salyukova Olga A.¹³,Chechetkina Nataliya N.¹,Vorotelyak Ekaterina A.⁴,Kalabusheva Ekaterina P.⁴,Fishman Veniamin S.⁵⁶,Kzhyshkowska Julia⁷⁸⁹,Graziano Claudio¹⁰,Magini Pamela¹⁰,Romeo Giovanni¹⁰,Lebedev Igor N.¹²³

Affiliation:

1. Laboratory of Cytogenetics; Research Institute of Medical Genetics, Tomsk NRMC; Tomsk Russia

2. Laboratory of Human Ontogenetics; National Research Tomsk State University; Tomsk Russia

3. Chair of Medical Genetics; Siberian State Medical University; Tomsk Russia

4. Laboratory of Cell Biology, Koltzov Institute of Developmental Biology; Russian Academy of Sciences; Moscow Russia

5. Institute of Cytology and Genetics; Novosibirsk Russia

6. Novosibirsk State University; Novosibirsk Russia

7. Laboratory for Translational Cellular and Molecular Biomedicine; National Research Tomsk State University; Tomsk Russia

8. Department of Innate Immunity and Tolerance; Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim, University of Heidelberg; Mannheim Germany

9. Red Cross Blood Service Baden-Württemberg - Hessen; Mannheim Germany

10. Medical Genetics Unit; Policlinico S. Orsola-Malpighi, University of Bologna; Bologna Italy

Funder

Russian Science Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40478/fullpdf

Reference30 articles.

1. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris;Al-Maawali;American Journal of Medical Genetics. Part A,2014