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Borjeson-Forssman-Lehmann Syndrome

Mental deficiency-epilepsy-endocrine disordersBFLSBORJBorjeson syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Borjeson-Forssman-Lehmann Syndrome" returned 1 free, full-text review articles. First 1 results:
Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.
Last Updated: Nov 13, 2018

Intellectual disability encompasses a large set of neurodevelopmental disorders of cognition that are more common in males than females. Although mutations in over 100 X-linked genes associated to intellectual disability have been identified, only a few X-linked intellectual disability ...

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Last Updated: Sep 17, 2014

Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a characteristic facial gestalt with bitemporal narrowing, prominent supraorbital ridges, synophrys, a short nose and dental anomalies, tapering fingers ...

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1 Free Review Articles 2 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Borjeson-Forssman-Lehmann Syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Borjeson-Forssman-Lehmann Syndrome" returned 8 free, full-text research articles. First few results:
A Novel Nonsense Mutation of in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
Last Updated: Apr 14, 2020

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by mutations. Classic BFLS has been associated with intellectual disability (ID), developmental delay (DD), obesity, epilepsy, typical facial features and anomalies of fingers and toes. Endocrinological phenotypes ...

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.
Last Updated: Dec 02, 2018

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare disorder caused by mutations in the PHF6 gene. It manifests as syndromic X-linked recessive intellectual disability (ID) in males and as sporadic ID due to de novo mutations in females. Clinical features include variable ID and a ...

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8 Free Research Articles 34 Research Articles