Borjeson-Forssman-Lehmann Syndrome Latest Advances
Find the Latest Research About Borjeson-Forssman-Lehmann Syndrome
Last Updated: 06/30/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 40 publications
Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.
Journal: BMJ case reports
Published: February 25, 2026
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
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
Last Updated: 06/30/2026