Literature DB >> 26683739

X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy.

Barbara Mikat1, Claudia Roll, Detlev Schindler, Ulrich Gembruch, Iris Klempert, Karin Buiting, Nuria C Bramswig, Dagmar Wieczorek.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 26683739     DOI： 10.1097/MCD.0000000000000111

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


× No keyword cloud information.
  3 in total

1.  Genetic Testing in a Cohort of Complex Esophageal Atresia.

Authors:  Eliane Beauregard-Lacroix; Jessica Tardif; Emmanuelle Lemyre; Zoha Kibar; Christophe Faure; Philippe M Campeau
Journal:  Mol Syndromol       Date:  2017-06-16

2.  Association of clinical severity with FANCB variant type in Fanconi anemia.

Authors:  Moonjung Jung; Ramanagouda Ramanagoudr-Bhojappa; Sylvie van Twest; Rasim Ozgur Rosti; Vincent Murphy; Winnie Tan; Frank X Donovan; Francis P Lach; Danielle C Kimble; Caroline S Jiang; Roger Vaughan; Parinda A Mehta; Filomena Pierri; Carlo Dufour; Arleen D Auerbach; Andrew J Deans; Agata Smogorzewska; Settara C Chandrasekharappa
Journal:  Blood       Date:  2020-04-30       Impact factor: 25.476

3.  Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

Authors:  Rajalakshmi S Asur; Danielle C Kimble; Francis P Lach; Moonjung Jung; Frank X Donovan; Aparna Kamat; Raymond J Noonan; James W Thomas; Morgan Park; Peter Chines; Adrianna Vlachos; Arleen D Auerbach; Agata Smogorzewska; Settara C Chandrasekharappa
Journal:  Mol Genet Genomic Med       Date:  2017-11-30       Impact factor: 2.183
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.