Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features-Reference-Cited by-同舟云学术

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Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features

Published:2014-12-08 Issue:2 Volume:167 Page:389-393
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kuroda Yukiko¹,Saito Toshiyuki²,Nagai Jun-Ichi²,Ida Kazumi¹,Naruto Takuya¹,Masuno Mitsuo³,Kurosawa Kenji¹

Affiliation:

1. Division of Medical Genetics; Kanagawa Children's Medical Center; Yokohama Japan

2. Department of Clinical Laboratory; Kanagawa Children's Medical Center; Yokohama Japan

3. Genetic Counseling Program; Kawasaki University of Medical Welfare; Kurashiki Japan

Funder

The Ministry of Health, Labour and Welfare of Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter;Archer;Am J Med Genet Part A,2005

2. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome;Aretz;Hum Mut,2005

3. Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11. 23:p12. 3);Kurosawa;Congenit Anom (Kyoto),2012

4. Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome;Le Meur;Eur J Hum Genet,2004

5. The MicroRNA miR-124 promotes neuronal differentiation by triggering brain-specific alternative pre-mRNA splicing;Makeyev;Mol Cell,2007

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1. Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients;World Journal of Gastroenterology;2023-06-07

2. Family with Peutz–Jeghers syndrome in Indonesia;JGH Open;2022-04-12

3. 19p13.3 Deletion With Polyotia: A Case Report and Literature Review;Cureus;2021-11-17

4. Transcriptomics unravels molecular players shaping dorsal lip hypertrophy in the vacuum cleaner cichlid, Gnathochromis permaxillaris;BMC Genomics;2021-07-05

5. Normal peripheral blood neutrophil numbers accompanying ELANE whole gene deletion mutation;Blood Advances;2019-08-19

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