Elisabeth Gersdorf-Steichen

Innsbruck, 6020, Austria

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 15 publications

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Journal: American journal of human genetics

Published: December 18, 2025

Treatment of an Opposing Metabolic Situation: GLUT1-Deficiency Syndrome and Type 1 Diabetes.

Treatment of an Opposing Metabolic Situation: GLUT1-Deficiency Syndrome and Type 1 Diabetes.

Journal: JIMD reports

Published: December 18, 2024

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Journal: Orphanet journal of rare diseases

Published: January 23, 2019

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 12, 2018

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Journal: Nature communications

Published: December 18, 2017

Arterial tortuosity syndrome: 40 new families and literature review.

Arterial tortuosity syndrome: 40 new families and literature review.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 11, 2017

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Journal: Journal of medical genetics

Published: December 14, 2016

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

Journal: Human mutation

Published: December 14, 2016

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.

Journal: Clinical genetics

Published: November 24, 2016

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Journal: European journal of human genetics : EJHG

Published: May 27, 2016

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.

Journal: Scientific reports

Published: May 05, 2016

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 25, 2014

Showing 1-12 of 15

Last Updated: 09/26/2026