Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 side-chain cleavage enzyme gene (CYP11A1) in a 46,XX Korean girl

[1]  H. Yoo.  Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age , 2021, Annals of pediatric endocrinology & metabolism.

[2]  A. Gach,et al.  A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development , 2021, International journal of environmental research and public health.

[3]  J. Achermann,et al.  Primary adrenal insufficiency: New genetic causes and their long‐term consequences , 2019, Clinical endocrinology.

[4]  A. Torky,et al.  Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency , 2018, The Journal of clinical endocrinology and metabolism.

[5]  C. Goursaud,et al.  Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene , 2018, Front. Endocrinol..

[6]  V. Hwa,et al.  Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1 , 2018, Hormone Research in Paediatrics.

[7]  P. Blackburn,et al.  A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency , 2017, Molecular genetics & genomic medicine.

[8]  J. Varvařovská,et al.  First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic , 2016, Journal of pediatric endocrinology & metabolism : JPEM.

[9]  Z. Tümer,et al.  Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci , 2016, Clinical Epigenetics.

[10]  Stefan R Bornstein,et al.  Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline. , 2016, The Journal of clinical endocrinology and metabolism.

[11]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[12]  V. Sheffield,et al.  Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. , 2013, The Journal of clinical endocrinology and metabolism.

[13]  G. Utermann,et al.  Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated , 2005, American journal of medical genetics. Part A.

[14]  E. Engel,et al.  Uniparental disomies in unselected populations. , 1998, American journal of human genetics.