Borjeson-Forssman-Lehmann Syndrome Latest Advances

Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.

Journal: PLoS genetics

Published: July 03, 2024

PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.

Journal: EMBO reports

Published: June 13, 2023

Börjeson-Forssman-Lehmann syndrome: A case report.

Journal: Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences

Published: March 31, 2023

Borjeson-Forssman-Lehmann Syndrome: Clinical Features and Diagnostic Challenges.

Journal: Brain & NeuroRehabilitation

Published: March 24, 2023

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Journal: European journal of human genetics : EJHG

Published: February 06, 2023

The Role of PHF6 in Hematopoiesis and Hematologic Malignancies.

Journal: Stem cell reviews and reports

Published: August 11, 2022

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Journal: Clinical genetics

Published: March 21, 2022

X Chromosome Inactivation Pattern and Pregnancy Outcome of Female Carriers of Pathogenic Heterozygous X-Linked Deletions.

Journal: Frontiers in genetics

Published: September 24, 2021

A case of Börjeson-Forssman-Lehmann syndrome caused by PHF6 gene mutation

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: April 26, 2021

Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.

Journal: Human molecular genetics

Published: December 28, 2020

Loss of PHF6 leads to aberrant development of human neuron-like cells.

Journal: Scientific reports

Published: July 27, 2020

A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.

Journal: Journal of molecular neuroscience : MN

Published: January 03, 2020

Borjeson-Forssman-Lehmann Syndrome Latest Advances

Find the Latest Research About Borjeson-Forssman-Lehmann Syndrome

Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.

Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.

PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.

PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.

Börjeson-Forssman-Lehmann syndrome: A case report.

Börjeson-Forssman-Lehmann syndrome: A case report.

Borjeson-Forssman-Lehmann Syndrome: Clinical Features and Diagnostic Challenges.

Borjeson-Forssman-Lehmann Syndrome: Clinical Features and Diagnostic Challenges.

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

The Role of PHF6 in Hematopoiesis and Hematologic Malignancies.

The Role of PHF6 in Hematopoiesis and Hematologic Malignancies.

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

X Chromosome Inactivation Pattern and Pregnancy Outcome of Female Carriers of Pathogenic Heterozygous X-Linked Deletions.

X Chromosome Inactivation Pattern and Pregnancy Outcome of Female Carriers of Pathogenic Heterozygous X-Linked Deletions.

A case of Börjeson-Forssman-Lehmann syndrome caused by PHF6 gene mutation

A case of Börjeson-Forssman-Lehmann syndrome caused by PHF6 gene mutation

Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.

Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.

Loss of PHF6 leads to aberrant development of human neuron-like cells.

Loss of PHF6 leads to aberrant development of human neuron-like cells.

A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.

A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.