16q12 microdeletion syndrome in two Japanese boys-Reference-Cited by-同舟云学术

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16q12 microdeletion syndrome in two Japanese boys

Published:2014-10 Issue:5 Volume:56 Page:e75-e78
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatr Int

Author:

Morisada Naoya¹,Sekine Takashi²,Ishimori Shingo³,Tsuda Masahiko⁴,Adachi Masao³⁵,Nozu Kandai¹,Nakanishi Koichi⁶,Tanaka Ryojiro⁷,Iijima Kazumoto¹

Affiliation:

1. Department of Pediatrics; Kobe University Graduate School of Medicine; Kobe Japan

2. Department of Pediatrics; Toho University Ohashi Hospital; Tokyo Japan

3. Department of Pediatrics; Kakogawa West-City Hospital; Kakogawa Japan

4. Tsuda Children's Clinic; Tokyo Japan

5. Adachi Children's Clinic; Kakogawa Japan

6. Department of Pediatrics; Wakayama Medical University; Wakayama Japan

7. Department of Nephrology; Hyogo Prefectural Children's Hospital; Kobe Japan

Funder

Health and Labor Sciences Research Grant

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.12426/fullpdf

Reference10 articles.

1. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome;Borozdin;Hum. Mutat.,2006

2. A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect;Shoukier;Am. J. Med. Genet. A,2012

3. Essential roles of Sall1 in kidney development;Nishinakamura;Kidney Int.,2005

4. Implications for genotype-phenotype predictions in Townes-Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature;Miller;Am. J. Med. Genet. A,2012

5. A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype;Engels;J. Med. Genet.,2000

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1. Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort;Journal of Medical Genetics;2024-01-31

2. Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review;Orphanet Journal of Rare Diseases;2023-08-29

3. Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta‐analysis;Clinical Genetics;2021-03-21

4. De Novo Apparently Balanced Translocation with a Novel Abnormal Phenotype: Review and Case Presentation;Romanian Journal of Legal Medicine;2021-03-10

5. Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature;American Journal of Medical Genetics Part A;2021-01-13

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