Publications:

Delineation of dual molecular diagnosis in patients with skeletal deformity.

Orphanet Journal Of Rare Diseases

Liu, Lian L; Sun, Liying L; Chen, Yujun Y; Wang, Muchuan M; Yu, Chenxi C; Huang, Yingzhao Y; Zhao, Sen S; Du, Huakang H; Chen, Shaoke S; Fan, Xin X; Tian, Wen W; Wu, Zhihong Z; , ; Qiu, Guixing G; Zhang, Terry Jianguo TJ; Wu, Nan N

Publication Date: 2022-03-28

Variant appearance in text: NF1: 2307del

PubMed Link: 35346302

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2293.pdf

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Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Translational Vision Science & Technology

Flores Pimentel, Mariana M; Heath, Anna A; Wan, Michael J MJ; Hussein, Rowaida R; Leahy, Kate E KE; MacDonald, Heather H; Tavares, Erika E; VandenHoven, Cynthia C; MacNeill, Katelyn K; Kannu, Peter P; Parkin, Patricia C PC; Heon, Elise E; Reginald, Arun A; Vincent, Ajoy A

Publication Date: 2022-02-01

Variant appearance in text: NF1: 2307del; Thr770Leufs*21

PubMed Link: 35119474

Variant Present in the following documents:

• Main text
• tvst-11-2-10.pdf

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Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Translational Vision Science & Technology

Flores Pimentel, Mariana M; Heath, Anna A; Wan, Michael J MJ; Hussein, Rowaida R; Leahy, Kate E KE; MacDonald, Heather H; Tavares, Erika E; VandenHoven, Cynthia C; MacNeill, Katelyn K; Kannu, Peter P; Parkin, Patricia C PC; Heon, Elise E; Reginald, Arun A; Vincent, Ajoy A

Publication Date: 2022-02-01

Variant appearance in text: NF1: 2307del; Thr770Leufs*21

PubMed Link: 35119474

Variant Present in the following documents:

• Main text
• tvst-11-2-10.pdf

View BVdb publication page