LUCIA SENTCHORDI

Profesor Asociado

Universidad Complutense de Madrid

Spain

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Lucia Sentchordi is an Associate Professor at Universidad Complutense in Spain. Her research primarily focuses on skeletal dysplasia, particularly the molecular and clinical implications of genetic variants associated with conditions such as short stature and skeletal defects. She has contributed significantly to the field through her recent publications, which explore the implications of various genetic variants on disease presentation and outcomes.

Articles (7)

Year:

2024

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2023

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2021

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2020

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2020

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2020

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2020

Collaborators (2)

Angel Campos-Barros

Head of the Molecular Endocrinology Division

La Paz University Hospital

SPAIN

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Elena Vallespín

La Paz University Hospital

SPAIN

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LUCIA SENTCHORDI

Research Interests

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Articles (7)

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

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

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

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

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

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

Improvisation in times of pandemic, a reason for reflection.

Collaborators (2)

Angel Campos-Barros

Elena Vallespín

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