Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome-Reference-Cited by-同舟云学术

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome

Published:2018-05-28 Issue:3 Volume:38 Page:242-248
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Lee Seungjun¹²,Kim Eun Jin³,Cho Sung Im³,Park Hyunwoong⁴,Seo Soo Hyun⁵,Seong Moon-Woo³,Park Sung Sup³,Jung Sung-Eun⁶,Lee Seong-Cheol⁶,Park Kwi-Won⁶,Kim Hyun-Young⁶

Affiliation:

1. Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea

2. Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea

3. Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea

4. Department of Laboratory Medicine, Gyeongsang National University Changwon Hospital, Changwon, Korea

5. Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea

6. Department of Pediatric Surgery, Seoul National University College of Medicine, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2018.38.3.242

Reference38 articles.

1. Triad of anorectal, sacral, and presacral anomalies

2. Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting thesonic hedgehoggene and theHLXB9gene at 7q36.3

3. Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

4. Phenotype analysis impacts testing strategy in patients with Currarino syndrome

5. Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

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