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Literature DB >> 23324645

Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome.

Hakan Ulucan¹, Erkan Koparir, Asuman Koparir, Ender Karaca, Ramazan Emre, Alper Gezdirici, Elif Yosunkaya, Mehmet Seven, Mustafa Ozen, Adnan Yuksel.

Abstract

Entities: Disease Mutation

Mesh：

Year: 2013 PMID： 23324645 DOI： 10.1097/MCD.0b013e32835cd5df

Source DB: PubMed Journal: Clin Dysmorphol ISSN： 0962-8827 Impact factor: 0.816

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5 in total

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

Authors: 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
Journal: Am J Hum Genet Date: 2015-12-03 Impact factor: 11.025

Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome.

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

Review 2. [Syndroms associated with benign skin tumors].

3. Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.

Review 4. New described dermatological disorders.

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