Karen E. Heath

Madrid, MD 28029, Spain

Last Updated: 09/26/2026

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Found 93 publications

International guideline on genetic testing of children with short stature.

International guideline on genetic testing of children with short stature.

Journal: European journal of endocrinology
Published: January 03, 2026

International guideline on genetic testing of children with short stature.

International guideline on genetic testing of children with short stature.

Journal: European journal of endocrinology
Published: January 03, 2026

Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type.

Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type.

Journal: European journal of human genetics : EJHG
Published: December 01, 2025

Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature review.

Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature review.

Journal: Bone
Published: October 23, 2025

External validation of the proposed diagnostic criteria for hypophosphatasia in adults of a Spanish cohort.

External validation of the proposed diagnostic criteria for hypophosphatasia in adults of a Spanish cohort.

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
Published: August 30, 2025

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Journal: Clinical genetics
Published: July 11, 2025

CRTAP-Related Osteogenesis Imperfecta: Clinical Variability and a Potential Founder Variant in CRTAP.

CRTAP-Related Osteogenesis Imperfecta: Clinical Variability and a Potential Founder Variant in CRTAP.

Journal: Molecular syndromology
Published: February 10, 2025

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

AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

Journal: Clinical genetics
Published: September 13, 2024

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Journal: American journal of human genetics
Published: May 03, 2024

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

ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.

ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.

Journal: European journal of medical genetics
Published: September 29, 2023
Showing 1-12 of 93

Last Updated: 09/26/2026