Mari Minatogawa

Ishinomaki, Japan

Last Updated: 09/26/2026

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Found 12 publications

Clinical Interpretation of a Novel AAGAB Splice-Site Variant (c.73+5G>A) of Uncertain Significance in a Clinically Typical Punctate Palmoplantar Epidermal Differentiation Disorder Phenotype.

Clinical Interpretation of a Novel AAGAB Splice-Site Variant (c.73+5G>A) of Uncertain Significance in a Clinically Typical Punctate Palmoplantar Epidermal Differentiation Disorder Phenotype.

Journal: The Journal of dermatology

Published: February 15, 2026

Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population.

Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population.

Journal: Journal of medical genetics

Published: October 18, 2025

Atypical Sotos syndrome caused by a novel splice site variant.

Atypical Sotos syndrome caused by a novel splice site variant.

Journal: Human genome variation

Published: August 11, 2022

Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.

Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.

Journal: Human mutation

Published: February 11, 2022

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Journal: Clinical genetics

Published: November 04, 2021

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.

Journal: Human genome variation

Published: October 24, 2021

Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.

Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.

Journal: American journal of medical genetics. Part A

Published: June 10, 2021

Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.

Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.

Journal: American journal of medical genetics. Part A

Published: April 06, 2021

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Journal: Journal of medical genetics

Published: November 29, 2020

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Journal: American journal of medical genetics. Part A

Published: March 26, 2020

Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome.

Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome.

Journal: American journal of medical genetics. Part A

Published: August 03, 2017

Expansion of the phenotype of Kosaki overgrowth syndrome.

Expansion of the phenotype of Kosaki overgrowth syndrome.

Journal: American journal of medical genetics. Part A

Published: January 29, 2017

Showing 1-12 of 12

Last Updated: 09/26/2026