Filippi Syndrome Latest Advances

Research progress of genetic study on Filippi syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: June 24, 2026

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series.

Journal: Health science reports

Published: December 23, 2025

Filippi syndrome-associated CKAP2L modulates microtubule dynamics essential for mitosis and ciliary length regulation.

Journal: Journal of molecular cell biology

Published: August 04, 2025

Proteomic profiling of primary cilia in the developing brain uncovers new regulators of cortical development.

Journal: bioRxiv : the preprint server for biology

Published: July 14, 2025

Proximity labeling proteomics maps radial glial ciliary proteins across the developing telencephalon.

Journal: Cell reports

Published: June 03, 2025

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.

Journal: American journal of medical genetics. Part A

Published: January 28, 2024

Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L-related Filippi syndrome to include an adolescent male with normal intellect.

Journal: American journal of medical genetics. Part A

Published: November 29, 2021

Novel variants identified in CKAP2L in two siblings with Filippi syndrome.

Journal: Cold Spring Harbor molecular case studies

Published: September 25, 2021

Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.

Journal: American journal of medical genetics. Part A

Published: December 17, 2020

Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty.

Journal: Clinical dysmorphology

Published: March 29, 2019

CKAP2L mutation confirms the diagnosis of Filippi syndrome.

Journal: Clinical genetics

Published: October 06, 2017

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Journal: European journal of human genetics : EJHG

Published: July 02, 2015

Filippi Syndrome Latest Advances

Find the Latest Research About Filippi Syndrome

Research progress of genetic study on Filippi syndrome

Research progress of genetic study on Filippi syndrome

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series.

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series.

Filippi syndrome-associated CKAP2L modulates microtubule dynamics essential for mitosis and ciliary length regulation.

Filippi syndrome-associated CKAP2L modulates microtubule dynamics essential for mitosis and ciliary length regulation.

Proteomic profiling of primary cilia in the developing brain uncovers new regulators of cortical development.

Proteomic profiling of primary cilia in the developing brain uncovers new regulators of cortical development.

Proximity labeling proteomics maps radial glial ciliary proteins across the developing telencephalon.

Proximity labeling proteomics maps radial glial ciliary proteins across the developing telencephalon.

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.

Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L-related Filippi syndrome to include an adolescent male with normal intellect.

Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L-related Filippi syndrome to include an adolescent male with normal intellect.

Novel variants identified in CKAP2L in two siblings with Filippi syndrome.

Novel variants identified in CKAP2L in two siblings with Filippi syndrome.

Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.

Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.

Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty.

Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty.

CKAP2L mutation confirms the diagnosis of Filippi syndrome.

CKAP2L mutation confirms the diagnosis of Filippi syndrome.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.