Lucia Montane-Sentchordi

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 12 publications

Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.

Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.

Journal: Clinical endocrinology

Published: January 09, 2025

Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.

Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.

Journal: European journal of endocrinology

Published: April 02, 2024

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.

Journal: Clinical genetics

Published: March 08, 2023

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Journal: European journal of endocrinology

Published: May 26, 2021

Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.

Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.

Journal: Clinical genetics

Published: September 18, 2020

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.

Journal: Journal of medical genetics

Published: May 18, 2020

Improvisation in times of pandemic, a reason for reflection.

Improvisation in times of pandemic, a reason for reflection.

Journal: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

Published: May 01, 2020

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

Journal: The Journal of clinical endocrinology and metabolism

Published: January 27, 2020

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Journal: Clinical endocrinology

Published: December 07, 2017

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 13, 2017

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

Journal: Clinical genetics

Published: October 03, 2016

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

Journal: American journal of medical genetics. Part A

Published: June 23, 2015

Showing 1-12 of 12

Last Updated: 09/26/2026