A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

Solaf Mohamed Elsayed; Enza Torre; Daniela Tavian; Laura Moro; Corrado Angelini; Tawhida Y. Abdel Ghaffar; Khalid Zalata; Enas Ezzeldein Fahmy; Sara Missaglia

doi:10.1016/j.gendis.2022.08.005

A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

Solaf Mohamed Elsayed
, Enza Torre
, Daniela Tavian
, Laura Moro
, Corrado Angelini
, Tawhida Y. Abdel Ghaffar
, Khalid Zalata
, Enas Ezzeldein Fahmy
, Sara Missaglia

Department of Pharmaceutical Sciences

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	690-693
Number of pages	4
Journal	Genes and Diseases
Volume	10
Issue number	3
DOIs	https://doi.org/10.1016/j.gendis.2022.08.005
Publication status	Published - May 2023

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10.1016/j.gendis.2022.08.005

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@article{040a80ea20a04fa9a842deb5a8a62852,

title = "A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype",

author = "Elsayed, \{Solaf Mohamed\} and Enza Torre and Daniela Tavian and Laura Moro and Corrado Angelini and \{Abdel Ghaffar\}, \{Tawhida Y.\} and Khalid Zalata and Fahmy, \{Enas Ezzeldein\} and Sara Missaglia",

year = "2023",

month = may,

doi = "10.1016/j.gendis.2022.08.005",

language = "English",

volume = "10",

pages = "690--693",

journal = "Genes and Diseases",

issn = "2352-4820",

publisher = "KeAi Communications Co.",

number = "3",

}

TY - JOUR

T1 - A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

AU - Elsayed, Solaf Mohamed

AU - Torre, Enza

AU - Tavian, Daniela

AU - Moro, Laura

AU - Angelini, Corrado

AU - Abdel Ghaffar, Tawhida Y.

AU - Zalata, Khalid

AU - Fahmy, Enas Ezzeldein

AU - Missaglia, Sara

PY - 2023/5

Y1 - 2023/5

UR - https://www.scopus.com/pages/publications/85138585871

U2 - 10.1016/j.gendis.2022.08.005

DO - 10.1016/j.gendis.2022.08.005

M3 - Article

SN - 2352-4820

VL - 10

SP - 690

EP - 693

JO - Genes and Diseases

JF - Genes and Diseases

IS - 3

ER -

A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

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