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

Dipartimento di Scienze del Farmaco

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

Lingua originale	Inglese
pagine (da-a)	690-693
Numero di pagine	4
Rivista	Genes and Diseases
Volume	10
Numero di pubblicazione	3
DOI	https://doi.org/10.1016/j.gendis.2022.08.005
Stato di pubblicazione	Pubblicato - mag 2023

Accesso al documento

10.1016/j.gendis.2022.08.005

Altri file e collegamenti

Link to publication in Scopus

Cita questo

@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 - http://www.scopus.com/inward/record.url?scp=85138585871&partnerID=8YFLogxK

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 -