Literature DB >> 32845069

Impact of Costello syndrome on growth patterns.

Chiara Leoni1, Valentina Giorgio1, Roberta Onesimo1, Eliza Kuczynska1, Giuseppe Zampino1,2.   

Abstract

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Year:  2020        PMID： 32845069     DOI： 10.1002/ajmg.a.61812

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome.

Authors:  Yu-Min Syu; Hung-Chang Lee; Jui-Hsing Chang; Chung-Lin Lee; Chih-Kuang Chuang; Huei-Ching Chiu; Ya-Hui Chang; Hsiang-Yu Lin; Shuan-Pei Lin
Journal:  Children (Basel)       Date:  2022-06-16

Review 2.  Multidisciplinary Management of Costello Syndrome: Current Perspectives.

Authors:  Chiara Leoni; Germana Viscogliosi; Marco Tartaglia; Yoko Aoki; Giuseppe Zampino
Journal:  J Multidiscip Healthc       Date:  2022-06-02

3.  Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Authors:  Antonio Valassina; Giuseppe Zampino; Chiara Leoni; Domenico Marco Romeo; Michele Pelliccioni; Mariangela Di Già; Roberta Onesimo; Valentina Giorgio; Elisabetta Flex; Marta Tedesco; Marco Tartaglia; Donato Rigante
Journal:  Orphanet J Rare Dis       Date:  2021-01-22       Impact factor: 4.123

4.  A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.

Authors:  Suzanna Lindsey-Temple; Matt Edwards; Verena Rickassel; Theresa Nauth; Georg Rosenberger
Journal:  Eur J Hum Genet       Date:  2022-06-29       Impact factor: 5.351
  4 in total

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