PMC Articles for MedGen (Select 1631916) - PMC - NCBI

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Select item 46784341.

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Mala Isrie, Martin Breuss, Guoling Tian, Andi Harley Hansen, Francesca Cristofoli, Jasmin Morandell, Zachari A. Kupchinsky, Alejandro Sifrim, Celia Maria Rodriguez-Rodriguez, Elena Porta Dapena, Kurston Doonanco, Norma Leonard, Faten Tinsa, Stéphanie Moortgat, Hakan Ulucan, Erkan Koparir, Ender Karaca, Nicholas Katsanis, Valeria Marton, Joris Robert Vermeesch, Erica E. Davis, Nicholas J. Cowan, David Anthony Keays, Hilde Van Esch

Am J Hum Genet. 2015 Dec 3; 97(6): 790–800. Published online 2015 Dec 3. doi: 10.1016/j.ajhg.2015.10.014

PMCID:: PMC4678434

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Select item 70730442.

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

Antonella Sferra, Stefania Petrini, Emanuele Bellacchio, Francesco Nicita, Francesco Scibelli, Maria Lisa Dentici, Paolo Alfieri, Gianluca Cestra, Enrico Silvio Bertini, Ginevra Zanni

Int J Mol Sci. 2020 Feb; 21(4): 1385. Published online 2020 Feb 18. doi: 10.3390/ijms21041385

PMCID:: PMC7073044

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Select item 70056123.

A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2

Jincai Feng, Xiaoping Lan, Jun Shen, Xiaozhen Song, Xiaojun Tang, Wuhen Xu, Xiang Ren, Hong Zhang, Guangjun Yu, Shengnan Wu

Mol Genet Genomic Med. 2020 Feb; 8(2): e1096. Published online 2020 Jan 5. doi: 10.1002/mgg3.1096

PMCID:: PMC7005612

Article PubReader PDF–763K Cite

Select item 59149164.

A Rare Case of Michelin Tire Baby Syndrome in a Newborn

Kamleshun Ramphul, Stephanie G Mejias, Yogeshwaree Ramphul-Sicharam

Cureus. 2018 Feb; 10(2): e2222. Published online 2018 Feb 24. doi: 10.7759/cureus.2222

PMCID:: PMC5914916

Article PubReader PDF–263K Cite

Select item 41633645.

New Described Dermatological Disorders

Müzeyyen Gönül, Bengu Cevirgen Cemil, Havva Ozge Keseroglu, Havva Kaya Akis

Biomed Res Int. 2014; 2014: 616973. Published online 2014 Aug 28. doi: 10.1155/2014/616973

PMCID:: PMC4163364

Article PubReader PDF–3.2M Cite

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