Nancy M. Nakata-Kokitsu

Bauru, SP, Brazil

Last Updated: 09/26/2026

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Found 34 publications

Unusual Association of Orofacial Cleft and Finger-Like Skin Appendages With or Without Constriction Rings: A Disorganization-Like Phenotype?

Unusual Association of Orofacial Cleft and Finger-Like Skin Appendages With or Without Constriction Rings: A Disorganization-Like Phenotype?

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: March 30, 2026

Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism.

Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism.

Journal: American journal of medical genetics. Part A

Published: November 06, 2025

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.

Journal: Molecular syndromology

Published: June 05, 2024

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Journal: American journal of medical genetics. Part A

Published: April 08, 2024

Identification of a de novo PUF60 variant associated with craniofacial microsomia.

Identification of a de novo PUF60 variant associated with craniofacial microsomia.

Journal: American journal of medical genetics. Part A

Published: December 13, 2023

Monodactyly in a patient with CHARGE syndrome: An additional case report.

Monodactyly in a patient with CHARGE syndrome: An additional case report.

Journal: American journal of medical genetics. Part A

Published: October 09, 2023

Systemic and oral abnormalities in Kabuki syndrome: a case series.

Systemic and oral abnormalities in Kabuki syndrome: a case series.

Journal: Oral surgery, oral medicine, oral pathology and oral radiology

Published: May 04, 2023

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.

Journal: American journal of medical genetics. Part A

Published: April 13, 2023

Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome.

Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome.

Journal: Clinical dysmorphology

Published: December 12, 2022

Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome.

Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome.

Journal: American journal of medical genetics. Part A

Published: November 04, 2022

Tessier 3 and 4 Clefts and Choanal Atresia: An Unusual Association?

Tessier 3 and 4 Clefts and Choanal Atresia: An Unusual Association?

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: September 13, 2021

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Journal: Human mutation

Published: July 30, 2021

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Last Updated: 09/26/2026