Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers-Reference-Cited by-同舟云学术

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Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers

Published:2013-07-04 Issue:8 Volume:161 Page:2105-2107
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Balikcioglu Pinar Gumus¹,Gómez Ricardo¹,Vargas Alfonso¹,Aradhya Swaroop²,Messiaen Ludwine M.³,Lacassie Yves⁴

Affiliation:

1. Department of Pediatrics, Division of Endocrinology; LSU Health Sciences Center and Children's Hospital; New Orleans; Louisiana

2. GeneDx; Gaithersburg; Maryland

3. UAB Medical Genomics Laboratory; Birmingham; Alabama

4. Department of Pediatrics, Division of Genetics; LSU Health Sciences Center and Children's Hospital; New Orleans; Louisiana

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36031/fullpdf

Reference11 articles.

1. Germ-line loss-of-function mutation in SPRED-1 cause a neurofibromatosis 1-like phenotype;Brems;Nat Genet,2007

2. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2;Gutmann;JAMA,1997

3. Blockage of the rete testis and efferent ductules by ectopic sertoli and leydig cells causes infertility in DAX-1-deficient male mice;Jeffs;Endocrinology,2001

4. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NROB1 gene mutations;Landau;Clin Endocrinol,2010

5. Analysis of DAX-1 (NROB1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: 10 years experience;Lin;J Clin Endocrinol Metab,2006

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development;Journal of Endocrinological Investigation;2023-02-06

2. A novel NR0B1 mutation correlated with X-linked adrenal hypoplasia congenital (AHC);Gene Reports;2022-06

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