Congenital adrenal hypoplasia.
COX PJ.
Proc R Soc Med. 1962 Nov;55(11):981-2. doi: 10.1177/003591576205501122.
Congenital adrenal hypoplasia due to p.Leu386Pro mutation in DAX1.
Vázquez-Temprano N, Sánchez-Sobrino P, Díaz-Trastoy O.
Med Clin (Barc). 2021 Jun 11;156(11):580-581. doi: 10.1016/j.medcli.2020.02.013. Epub 2020 May 30.
X-linked congenital adrenal hypoplasia: a case presentation.
Ouyang H, Chen B, Wu N, Li L, Du R, Qian M, Yu W, He Y, Liu X.
BMC Endocr Disord. 2021 Jun 15;21(1):118. doi: 10.1186/s12902-021-00785-8.
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.
Amano N, Narumi S, Aizu K, Miyazawa M, Okamura K, Ohashi H, Katsumata N, Ishii T, Hasegawa T.
J Clin Endocrinol Metab. 2024 Feb 20;109(3):641-648. doi: 10.1210/clinem/dgad627.
Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
Wikiera B, Jakubiak A, Zimowski J, Noczyńska A, Smigiel R.
Pediatr Endocrinol Diabetes Metab. 2012;18(4):153-7.
[CONGENITAL ADRENAL HYPOPLASIA IN INFANTS UNDER THE AGE OF 2 YEARS].
PATZER T.
Pediatr Pol. 1964 Mar;39:327-35.
Adrenal hypoplasia congenita in identical twins.
Al Amer AM, Al Rubaya KM, Alzahrani AS.
Saudi Med J. 2019 Jan;40(1):87-92. doi: 10.15537/smj.2019.1.23337.
Congenital adrenal hypoplasia in siblings.
MITCHELL RG, RHANEY K.
Lancet. 1959 Mar 7;1(7071):488-92. doi: 10.1016/s0140-6736(59)91020-7.
X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene.
Esquiaveto-Aun AM, de Mello MP, Guaragna MS, da Silva Lopes VLG, Francese-Santos AP, Dos Santos Cruz Piveta C, Mazolla TN, de Lemos-Marini SHV, Guerra-Junior G.
Am J Med Genet A. 2024 Jun;194(6):e63536. doi: 10.1002/ajmg.a.63536. Epub 2024 Jan 19.
[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia].
García-Medina JS, Sarmiento-Ramón MP, Lopera-Cañaveral MV, Zuluaga-Espinosa NA, Forero-Torres AC, Toro-Ramos M, Pineda-Trujillo N.
Andes Pediatr. 2022 Aug;93(4):585-590. doi: 10.32641/andespediatr.v93i4.4019.
