Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene

Adrenal Hyperplasia ◽

Rare Form ◽

A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal Hyperplasia

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2005-0874 ◽

2005 ◽

Vol 90 (9) ◽

pp. 5304-5308 ◽

Cited By ~ 32

Author(s):

Christa E. Flück ◽

Alexander Maret ◽

Delphine Mallet ◽

Stéphanie Portrat-Doyen ◽

John C. Achermann ◽

...

Keyword(s):

Protein Gene ◽

Novel Mutation ◽

Regulatory Protein ◽

Adrenal Hyperplasia ◽

Congenital Lipoid Adrenal Hyperplasia Due to a HeterozygousDe NovoMutation inStAR(Steroidogenic Acute Regulatory Protein) Gene Presenting with Ambiguous Genitalia in a 46,XY Patient.

10.1210/endo-meetings.2010.part2.p15.p2-745 ◽

2010 ◽

pp. P2-745-P2-745

Author(s):

G Guercio ◽

M Costanzo ◽

MS Baquedano ◽

E Berensztein ◽

M Bailez ◽

...

Keyword(s):

Protein Gene ◽

Regulatory Protein ◽

Ambiguous Genitalia ◽

Adrenal Hyperplasia ◽

Congenital lipoid adrenal hyperplasia caused by a frame-shift mutation in the steroidogenic acute regulatory protein gene

HORMONES ◽

10.14310/horm.2002.1198 ◽

2003 ◽

Vol 2 (3) ◽

pp. 179-182

Author(s):

Anastasios Papadimitriou ◽

Ioanna Fountzoula ◽

Georgia Tzortzatou ◽

Himangshu Bose

Keyword(s):

Protein Gene ◽

Regulatory Protein ◽

Adrenal Hyperplasia ◽

Frame Shift ◽

Frame Shift Mutation ◽

Novel Heterozygous Mutation in the Star (Steroidogenic Acute Regulatory Protein) Gene in a 46,XY Patient with Congenital Lipoid Adrenal Hyperplasia (CLAH)

10.1210/endo-meetings.2011.part3.p14.p2-728 ◽

2011 ◽

pp. P2-728-P2-728

Author(s):

Maria Sonia Baquedano ◽

Gabriela Guercio ◽

Daniela Napoli ◽

Mariana Costanzo ◽

Esperanza Berensztein ◽

...

Keyword(s):

Protein Gene ◽

Regulatory Protein ◽

Heterozygous Mutation ◽

Adrenal Hyperplasia ◽

A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia

Human Mutation ◽

10.1002/(sici)1098-1004(1998)11:4<331::aid-humu12>3.0.co;2-3 ◽

1998 ◽

Vol 11 (4) ◽

pp. 331-331 ◽

Cited By ~ 1

Author(s):

Noriyuki Katsumata ◽

Ayako Tanae ◽

Takashi Shinagawa ◽

Atsuko Nagashima-Miyokawa ◽

Mayumi Shimizu ◽

...

Keyword(s):

Japanese Patient ◽

Frameshift Mutation ◽

Protein Gene ◽

Regulatory Protein ◽

Adrenal Hyperplasia ◽

A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia

Clinical Pediatric Endocrinology ◽

10.1297/cpe.17.23 ◽

2008 ◽

Vol 17 (1) ◽

pp. 23-25

Author(s):

Katsura Ishizu ◽

Junko Tsubaki ◽

Wakako Jyo ◽

Toshihiro Tajima

Keyword(s):

Japanese Patient ◽

Novel Mutation ◽

Regulatory Protein ◽

Adrenal Hyperplasia ◽

Steroidogenic Acute Regulatory ◽

Star Gene

The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development

Hormone Research in Paediatrics ◽

10.1159/000354086 ◽

2013 ◽

Vol 80 (3) ◽

pp. 163-169 ◽

Cited By ~ 4

Author(s):

Bilgin Yüksel ◽

Alexandra E. Kulle ◽

Fatih Gürbüz ◽

Maik Welzel ◽

Damla Kotan ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Adrenal Insufficiency ◽

Novel Mutation ◽

Regulatory Protein ◽

The Novel ◽

Adrenal Hyperplasia ◽

Disorder Of Sex Development ◽

Sex Development ◽

Detection of the Missense Mutation A218V in the Steroidogenic Acute Regulatory Protein Gene of a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia

Clinical Pediatric Endocrinology ◽

10.1297/cpe.6.33 ◽

1997 ◽

Vol 6 (1) ◽

pp. 33-37 ◽

Cited By ~ 2

Author(s):

Noriyuki Katsumata ◽

Ayako Tanae ◽

Takashi Shinagawa ◽

Atsuko Nagashima-Miyokawa ◽

Mayumi Shimizu ◽

...

Keyword(s):

Missense Mutation ◽

Japanese Patient ◽

Protein Gene ◽

Regulatory Protein ◽

Adrenal Hyperplasia ◽

Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia

Human Mutation ◽

10.1002/humu.1380110195 ◽

1998 ◽

Vol 11 (S1) ◽

pp. S304-S307 ◽

Cited By ~ 5

Author(s):

Noriyuki Katsumata ◽

Ayako Tanae ◽

Takashi Shinagawa ◽

Atsuko Nagashima-Miyokawa ◽

Mayumi Shimizu ◽

...

Keyword(s):

Japanese Patient ◽

Frameshift Mutation ◽

Protein Gene ◽

Regulatory Protein ◽

Adrenal Hyperplasia ◽

A Novel Compound Heterozygous Mutation in the Steroidogenic Acute Regulatory Protein Gene in a Patient with Congenital Lipoid Adrenal Hyperplasia

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.84.11.3983 ◽

1999 ◽

Vol 84 (11) ◽

pp. 3983-3987 ◽

Cited By ~ 8

Author(s):

N. Katsumata

Keyword(s):

Protein Gene ◽

Regulatory Protein ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Adrenal Hyperplasia ◽