Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia.

N Chassaing; C Golzio; S Odent; L Lequeux; A Vigouroux; L Martinovic Bouriel; Francesco Danilo Tiziano; Lucia Masini; F Piro; G Maragliano; Al Delezoide; T Attié Bitach; S Manouvrier Hanu; Hc Etchevers; P. Calvas

Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia.

N Chassaing, C Golzio, S Odent, L Lequeux, A Vigouroux, L Martinovic Bouriel, Francesco Danilo Tiziano, Lucia Masini, F Piro, G Maragliano, Al Delezoide, T Attié Bitach, S Manouvrier Hanu, Hc Etchevers, P. Calvas

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

66 Citazioni (Scopus)

Lingua originale	English
pagine (da-a)	e673-e681
Rivista	Human Mutation
Stato di pubblicazione	Pubblicato - 2009

Keywords

stra6

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@article{556e0634f55b43b096cd974e5dd3163b,

title = "Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia.",

keywords = "stra6, stra6",

author = "N Chassaing and C Golzio and S Odent and L Lequeux and A Vigouroux and {Martinovic Bouriel}, L and Tiziano, {Francesco Danilo} and Lucia Masini and F Piro and G Maragliano and Al Delezoide and {Atti{\'e} Bitach}, T and {Manouvrier Hanu}, S and Hc Etchevers and P. Calvas",

year = "2009",

language = "English",

pages = "e673--e681",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Hindawi",

}

TY - JOUR

T1 - Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia.

AU - Chassaing, N

AU - Golzio, C

AU - Odent, S

AU - Lequeux, L

AU - Vigouroux, A

AU - Martinovic Bouriel, L

AU - Tiziano, Francesco Danilo

AU - Masini, Lucia

AU - Piro, F

AU - Maragliano, G

AU - Delezoide, Al

AU - Attié Bitach, T

AU - Manouvrier Hanu, S

AU - Etchevers, Hc

AU - Calvas, P.

PY - 2009

Y1 - 2009

KW - stra6

UR - http://hdl.handle.net/10807/30496

M3 - Article

SN - 1059-7794

SP - e673-e681

JO - Human Mutation

JF - Human Mutation

ER -