Alice Costantini

Stockholm, AB, Sweden

Last Updated: 09/26/2026

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Found 30 publications

Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families.

Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families.

Journal: Journal of medical genetics
Published: November 21, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation
Published: April 26, 2024

Co-Occurrence of Two Rare Diseases: A Child with Phenylketonuria and WNT1 Osteoporosis.

Co-Occurrence of Two Rare Diseases: A Child with Phenylketonuria and WNT1 Osteoporosis.

Journal: Hormone research in paediatrics
Published: February 23, 2024

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.

Journal: Calcified tissue international
Published: September 08, 2023

TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature.

TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature.

Journal: Annual review of genomics and human genetics
Published: August 25, 2023

Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.

Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: January 12, 2022

The Polygenic and Monogenic Basis of Paediatric Fractures.

The Polygenic and Monogenic Basis of Paediatric Fractures.

Journal: Current osteoporosis reports
Published: April 15, 2021

Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia.

Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia.

Journal: Frontiers in genetics
Published: March 15, 2021

New gene discoveries in skeletal diseases with short stature.

New gene discoveries in skeletal diseases with short stature.

Journal: Endocrine connections
Published: February 25, 2021

An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility.

An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility.

Journal: JBMR plus
Published: January 28, 2021

Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion.

Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: March 12, 2020

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: March 03, 2020
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Last Updated: 09/26/2026