Anna Seidler-Sowinska

Poznan, WP, Poland

Last Updated: 09/26/2026

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Found 40 publications

Pyle disease - Functional validation of disease-causing missense variants in SFRP4/sFRP4.

Pyle disease - Functional validation of disease-causing missense variants in SFRP4/sFRP4.

Journal: Bone

Published: March 20, 2026

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

Journal: International journal of molecular sciences

Published: January 02, 2026

Novel Biallelic INTS1 Variants May Expand the Phenotypic Spectrum of INTS1-Related Disorders-Case Report and Literature Review.

Novel Biallelic INTS1 Variants May Expand the Phenotypic Spectrum of INTS1-Related Disorders-Case Report and Literature Review.

Journal: Genes

Published: August 01, 2025

Novel compound heterozygous FAM20C variants cause Raine syndrome - retrospective prenatal diagnosis and literature review.

Novel compound heterozygous FAM20C variants cause Raine syndrome - retrospective prenatal diagnosis and literature review.

Journal: Orphanet journal of rare diseases

Published: April 14, 2025

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.

Journal: Orphanet journal of rare diseases

Published: April 07, 2025

Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.

Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.

Journal: Genes

Published: April 05, 2025

Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.

Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.

Journal: Journal of applied genetics

Published: July 30, 2024

A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.

A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.

Journal: Frontiers in molecular biosciences

Published: June 30, 2023

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

Journal: Journal of applied genetics

Published: August 01, 2022

Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature.

Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature.

Journal: Frontiers in pediatrics

Published: July 09, 2022

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.

Journal: Frontiers in genetics

Published: April 29, 2022

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.

Journal: Orphanet journal of rare diseases

Published: March 23, 2022

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Last Updated: 09/26/2026