Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency-Reference-Cited by-同舟云学术

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Published:2021-11 Issue: Volume: Page:
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Fasham James,Lin Siying,Ghosh Promita,Radio Francesca Clementina,Farrow Emily G.,Thiffault Isabelle,Kussman Jennifer,Zhou Dihong,Hemming Rick,Zahka Kenneth,Chioza Barry A.,Rawlins Lettie E.,Wenger Olivia K.,Gunning Adam C.,Pizzi Simone,Onesimo Roberta,Zampino Giuseppe,Barker Emily,Osawa Natasha,Rodriguez Megan Christine,Neuhann Teresa M.,Zackai Elaine H.,Keena Beth,Capasso Jenina,Levin Alex V.,Bhoj Elizabeth,Li Dong,Hakonarson Hakon,Wentzensen Ingrid M.,Jackson Adam,Chandler Kate E.,Coban-Akdemir Zeynep H.,Posey Jennifer E.,Banka Siddharth,Lupski James R.,Sheppard Sarah E.,Tartaglia Marco,Triggs-Raine Barbara,Crosby Andrew H.,Baple Emma L.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference40 articles.

1. Mutations in HYAL2, encoding hyaluronidase 2, cause a syndrome of orofacial clefting and cor triatriatum sinister in humans and mice;Muggenthaler;PLoS Genet,2017

2. The six hyaluronidase-like genes in the human and mouse genomes;Csoka;Matrix Biol,2001

3. Biology of hyaluronan: insights from genetic disorders of hyaluronan metabolism;Triggs-Raine;World J Biol Chem,2015

4. Mechanical control of tissue morphogenesis during embryological development;Ingber;Int J Dev Biol,2006

5. Glycosaminoglycan biosynthesis during 5-fluoro-2-deoxyuridine-induced palatal clefts in the rat;Singh;Arch Oral Biol,1997

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Deficiencies of Hyaluronan Degradation;Cells;2024-07-16