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

Adrenal Hyperplasia ◽

Frame Shift ◽

Frame Shift Mutation ◽

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

European Journal of Pediatrics ◽

10.1007/s00431-011-1620-5 ◽

2011 ◽

Vol 171 (5) ◽

pp. 787-793 ◽

Cited By ~ 7

Author(s):

Oksana Lekarev ◽

Delphine Mallet ◽

Tony Yuen ◽

Yves Morel ◽

Maria I. New

Keyword(s):

Adrenal Insufficiency ◽

Protein Gene ◽

Novel Mutation ◽

Regulatory Protein ◽

Ambiguous Genitalia ◽

Adrenal Hyperplasia ◽

Rare Form ◽

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 ◽

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 ◽

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 ◽

Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2006-1565 ◽

2006 ◽

Vol 91 (12) ◽

pp. 4781-4785 ◽

Cited By ~ 107

Author(s):

Bo Y. Baker ◽

Lin Lin ◽

Chan J. Kim ◽

Jamal Raza ◽

Claire P. Smith ◽

...

Keyword(s):

Male Genitalia ◽

Regulatory Protein ◽

Late Presentation ◽

Normal Male ◽

Adrenal Hyperplasia ◽

T→A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia

Human Molecular Genetics ◽

10.1093/hmg/4.12.2299 ◽

1995 ◽

Vol 4 (12) ◽

pp. 2299-2305 ◽

Cited By ~ 77

Author(s):

Meng-Kian Tee ◽

Dong Lin ◽

Teruo Sugawara ◽

John A. Holt ◽

Yann Guiguen ◽

...

Keyword(s):

Human Gene ◽

Regulatory Protein ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Adrenal Hyperplasia ◽