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Publications by Mamiko Shinsaka

Diagnosis of Female 17α-Hydroxylase Deficiency After Gonadectomy: A Case Report

Journal of Medical Case Reports

English

Kagami–Ogata Syndrome in a Fetus Presenting With Polyhydramnios, Malformations, and Preterm Delivery: A Case Report

Journal of Medical Case Reports

English

Related publications

Prevalence of CYP17A1 Gene Mutations in 17α-Hydroxylase Deficiency in the Chinese Han Population

Clinical Hypertension

English

Hypertension, Hypokalemia, and Left Adrenal Tumor Mimicking Primary Aldosteronism in a Patient With 17α-Hydroxylase Deficiency

Case Reports in Internal Medicine

English

Splicing Analysis of CYP11B1 Mutation in a Family Affected With 11β-Hydroxylase Deficiency: Case Report

BMC Endocrine Disorders

English

HOMOZYGOUS DELETION OF AMINO ACIDS 487–489 IN P450c17 CAUSES SEVERE 17α-Hydroxylase (17-Oh) DEFICIENCY

Pediatric Research

English

Antenatal Diagnosis of Steroid Sulphatase Deficiency: Case Report and Literature Survey.

Journal of Clinical Pathology

Forensic Medicine

English

A Case of Combined 21‐hydroxylase Deficiency and CHARGE Syndrome Featuring Micropenis and Cryptorchidism

Molecular genetics & genomic medicine

Molecular Biology

English

Dopamine Beta-Hydroxylase Deficiency

English

11-Beta-Hydroxylase Deficiency

English

Aromatase Deficiency, a Rare Syndrome: Case Report

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English