Publications:

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: 225: 552delC

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM1_ESM.xls, sheet 1

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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

European Journal Of Human Genetics : Ejhg

Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W

Publication Date: 2020-10

Variant appearance in text: 225: 552delC

PubMed Link: 32616876

Variant Present in the following documents:

• Main text
• 41431_2020_Article_653.pdf

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