SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1- mutated patient's management-Reference-Cited by-同舟云学术

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1- mutated patient's management

Published:2017-02-22 Issue:1 Volume:92 Page:99-103
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Colson C.¹²^ORCID,Aubry E.³,Cartigny M.²⁴,Rémy A.-A.¹⁴,Franquet H.⁵,Leroy X.²⁵,Kéchid G.⁶,Lefèvre C.⁴,Besson R.³,Cools M.⁷,Spinoit A.F.⁸,Sultan C.⁹¹⁰,Manouvrier S.¹²,Philibert P.⁹¹⁰,Ghoumid J.¹²

Affiliation:

1. CHU Lille; Clinique de Génétique Guy Fontaine; Lille France

2. EA 7364, RADEME, Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction; Université de Lille; Lille France

3. CHU Lille; Service de Chirurgie Viscérale Pédiatrique; Lille France

4. CHU Lille; Service d'Endocrinologie Pédiatrique; Lille France

5. CHU Lille; Institut de pathologie; Lille France

6. CHU Lille; Pédopsychiatrie; Lille France

7. Endocrinologie & Diabetologie voor kinderen en adolescenten; Universitair Ziekenhuis Gent; Belgium

8. Urologie; Universitair Ziekenhuis Gent; Belgium

9. Département de Biochimie et Hormonologie; CHU Montpellier; France

10. Université de Montpellier; CNRS UPR 1142 Institut de génétique Humaine, Equipe “Développement et Pathologie de la Gonade”; Montpellier France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12957/fullpdf

Reference30 articles.

1. Cloning and sequence analysis of the human gene encoding steroidogenic factor 1;Wong;J Mol Endocrinol,1996

2. Steroidogenic factor 1: a key determinant of endocrine development and function;Parker;Endocr Rev,1997

3. Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease;Schimmer;Mol Endocrinol,2010

4. Testicular differentiation factor SF-1 is required for human spleen development;Zangen;J Clin Invest,2014

5. A de novo novel heterozygous deletion mutation in steroidogenic-factor-1 (SF1, NR5A1) in a 46,XY patient with primary adrenal failure and splenic hypoplasia/aplasia;Hua-Mei;Horm Res,2013

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