Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome-Reference-Cited by-同舟云学术

Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome

Published:2021-05-18 Issue:5 Volume:109 Page:586-595
ISSN:0171-967X
Container-title:Calcified Tissue International
language:en
Short-container-title:Calcif Tissue Int

Author:

Al Kaissi Ali,Misof Barbara M.^ORCID,Laccone Franco,Blouin Stéphane,Roschger Paul,Kircher Susanne G.,Shboul Mohammad,Mindler Gabriel T.,Girsch Werner,Ganger Rudolf

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://link.springer.com/content/pdf/10.1007/s00223-021-00862-z.pdf

Reference38 articles.

1. Cohen MM, Hayden PW (1979) A newly recognised hamartomatous syndrome. Birth Defects Orig Artic Ser 15(5B):291–296

2. Cohen MM Jr (2014) Proteus syndrome review: molecular, clinical, and pathologic features. Clin Genet 85:111–119. https://doi.org/10.1111/cge.12266.Review

3. Lindhurst MJ, Brinster LR, Kondolf HC, Shwetar JJ, Yourick MR, Shiferaw H, Keppler-Noreuil KM, Elliot G, Rivas C, Garrett L, Gomez-Rodriguez J, Sebire NJ, Hewitt SM, Schwartzberg PL, Biesecker LG (2019) A mouse model of Proteus syndrome. Hum Mol Genet 28:2920–2936. https://doi.org/10.1093/hmg/ddz116

4. Cohen MM Jr (2005) Proteus syndrome: an update. Am J Med Genet C Semin Med Genet 137C(1):38–52

5. Happle R, Steijlen PM, Theile U, Karitzky D, Tinschert S, Albrecht-Nebe H, Kuster W (1997) Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome. Arch Dermatol 133:77–80

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