Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exonSATB2frameshift mutation-Reference-Cited by-同舟云学术

Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exonSATB2frameshift mutation

Author:

Boone Philip M.¹,Chan Yiu Man²,Hunter Jill V.³,Pottkotter Louis E.³,Davino Nelson A.⁴,Yang Yaping¹⁵,Beuten Joke¹⁵,Bacino Carlos A.¹³⁵

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine

2. Department of Obstetrics and Gynaecology; The Chinese University of Hong Kong; Hong Kong SAR China

3. Texas Children's Hospital; Houston Texas

4. Department of Orthopedic Surgery; UT Health Science Center at Houston; Houston Texas

5. Medical Genetics Laboratories; Baylor College of Medicine; Houston Texas

Funder

Baylor College of Medicine Medical Scientist Training Program

Wintermann Foundation

Baylor Research Advocates for Student Scientists

Texas Department of State Health Services

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

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