Constanza Delgado-Garcia

Calle Dr. Márquez 162, Colonia Doctores, C.P. 06720
Cuauhtemoc, DIF 06720, Mexico

Last Updated: 09/26/2026

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Found 20 publications

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.

Journal: Boletin medico del Hospital Infantil de Mexico

Published: September 13, 2022

Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient.

Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient.

Journal: Clinical dysmorphology

Published: November 09, 2021

X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.

X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.

Journal: Boletin medico del Hospital Infantil de Mexico

Published: July 28, 2020

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.

Journal: Annals of hepatology

Published: June 20, 2018

A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.

A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.

Journal: Case reports in genetics

Published: March 01, 2018

Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.

Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.

Journal: Ophthalmic genetics

Published: September 19, 2017

Monosomy 9p24 in two non-related patients as result of a translocation (2;9).

Monosomy 9p24 in two non-related patients as result of a translocation (2;9).

Journal: Archivos argentinos de pediatria

Published: September 11, 2017

Pallister-Killian syndrome in a Mexican mestizo patient. Case report

Pallister-Killian syndrome in a Mexican mestizo patient. Case report

Journal: Archivos argentinos de pediatria

Published: June 01, 2017

Out-of-pocket expenditures and care time for children with Down Syndrome: A single-hospital study in Mexico City.

Out-of-pocket expenditures and care time for children with Down Syndrome: A single-hospital study in Mexico City.

Journal: PloS one

Published: March 30, 2017

Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia.

Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: January 04, 2017

Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature.

Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature.

Journal: International journal of dermatology

Published: April 28, 2016

Congenital macroglossia: clinical features and therapeutic strategies in paediatric patients

Congenital macroglossia: clinical features and therapeutic strategies in paediatric patients

Journal: Boletin medico del Hospital Infantil de Mexico

Published: January 01, 2016

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Last Updated: 09/26/2026