Novel homozygous mutation, c.400C>T (p.Arg134*), in thePVRL1gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient-Reference-Cited by-同舟云学术

Novel homozygous mutation, c.400C>T (p.Arg134*), in thePVRL1gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient

Author:

Yoshida Kazue¹,Hayashi Ryota²,Fujita Hideki³,Kubota Masaya⁴,Kondo Mai⁵,Shimomura Yutaka²,Niizeki Hironori¹

Affiliation:

1. Department of Dermatology; National Center for Child Health and Development; Tokyo Japan

2. Laboratory of Genetic Skin Diseases; Niigata University Graduate School of Medical and Dental Sciences; Niigata Japan

3. Department of Medical Genetics; National Center for Child Health and Development; Tokyo Japan

4. Department of Neurology; National Center for Child Health and Development; Tokyo Japan

5. Department of Allergy; National Center for Child Health and Development; Tokyo Japan

Funder

Takeda Science Foundation

National Center for Child Health and Development

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

Reference16 articles.

Cited by 11 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 Defects of Nails and Nail Growth;Rook's Textbook of Dermatology;2024-02-20

4. Uncombable hair syndrome and beyond;Acta Dermatovenerologica Alpina Pannonica et Adriatica;2022