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4 articles related to "Multiple Intestinal Atresia"

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Articles

Original Research

Published on 15 Dec 2021

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

in Primary Immunodeficiencies

Wenjun Mou
Shen Yang
Ruolan Guo
Libing Fu
Li Zhang
Weihong Guo
Jingbin Du
Jianxin He
Qinghua Ren
Chanjuan Hao

Frontiers in Immunology

doi 10.3389/fimmu.2021.759308

6,896 views
18 citations

Original Research

Published on 07 Sep 2017

Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison

in Primary Immunodeficiencies

Reyin Lien
Yung-Feng Lin
Min-Wei Lai
Hui-Ying Weng
Ren-Chin Wu
Tang-Her Jaing
Jing-Long Huang
Shih-Feng Tsai
Wen-I Lee

Frontiers in Immunology

doi 10.3389/fimmu.2017.01066

11,514 views
50 citations

Case Report

Published on 07 Nov 2019

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency

in Primary Immunodeficiencies

Marie-Thérèse El-Daher
Julie Lemale
Julie Bruneau
Claire Leveau
Frédéric Guerin
Nathalie Lambert
Jean-Sébastien Diana
Bénédicte Neven
Fernando E. Sepulveda
Aurore Coulomb-L'Hermine

Frontiers in Immunology

doi 10.3389/fimmu.2019.02592

5,222 views
14 citations

Original Research

Published on 12 Jun 2020

Maximal Segmental Score Method for Localizing Recessive Disease Variants Based on Sequence Data

in Statistical Genetics and Methodology

Ai-Ru Hsieh
Jia Jyun Sie
Chien Ching Chang
Jurg Ott
Ie-Bin Lian
Cathy S. J. Fann

Frontiers in Genetics

doi 10.3389/fgene.2020.00555

3,502 views
1 citation