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Fumiko Kato Selected Research

Focal Dermal Hypoplasia (Syndrome, Goltz)

1/2022A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.

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Fumiko Kato Research Topics

Disease

3Neoplasms (Cancer)
10/2013 - 02/2008
1Focal Dermal Hypoplasia (Syndrome, Goltz)
01/2022
1Congenital Disorders of Glycosylation
05/2021
1Intellectual Disability (Idiocy)
05/2021
1Antley-Bixler Syndrome Phenotype
01/2018
1Virilism (Virilization)
01/2018
1Synostosis
01/2018
1Adrenocortical Carcinoma
05/2016
1Precocious Puberty
05/2016
1Megalencephaly
05/2014
1And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation
05/2014
1Oligohydramnios
05/2014
1Arachnodactyly
05/2014
1DiGeorge Syndrome (Syndrome, DiGeorge)
01/2014
1Adrenal Insufficiency (Adrenal Gland Hypofunction)
10/2013
1Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
10/2013
146,XY Disorder of Sex Development (Male Pseudohermaphroditism)
10/2012
1Gynecomastia
06/2011

Drug/Important Bio-Agent (IBA)

3SteroidsIBA
01/2018 - 10/2013
3Testosterone (Sustanon)FDA Link
10/2013 - 02/2008
2AndrogensIBA
01/2018 - 05/2016
2GlucocorticoidsIBA
05/2014 - 10/2013
1RNA Splice SitesIBA
01/2022
1Antithrombin IIIIBA
05/2021
1Congenital disorder of glycosylation type 1AIBA
05/2021
1Dihydrotestosterone (Androstanolone)IBA
01/2018
1OligonucleotidesIBA
05/2014
1Protein Isoforms (Isoforms)IBA
01/2014
1Hydrocortisone (Cortisol)FDA LinkGeneric
10/2013
1EnzymesIBA
10/2013
1Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA
10/2013
1Mixed Function Oxygenases (Monooxygenases)IBA
10/2013
1Oxidoreductases (Dehydrogenase)IBA
10/2013
1Steroid 21-Hydroxylase (21 Hydroxylase)IBA
10/2013
1DNA (Deoxyribonucleic Acid)IBA
10/2012
1Steroidogenic Factor 1IBA
10/2012
1due to increased aromatase activity familial gynecomastiaIBA
06/2011
1Small Interfering RNA (siRNA)IBA
02/2008