Distinct phenotype of PHF6 deletions in females
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference5 articles.
1. PHF6 deletions may cause Borjeson–Forssman–Lehmann syndrome in females;Berland;Mol Syndromol,2011
2. Mutations in PHF6 are associated with Borjeson–Forssman–Lehmann syndrome;Lower;Nat Genet,2002
3. Lesch–Nyhan syndrome;Nyhan,1993
4. A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling;Wieczorek;Hum Mol Genet,2013
5. A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype;Zweier;J Med Genet,2013
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2. Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families;European Journal of Human Genetics;2023-09-14
3. Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6 ;Clinical Genetics;2022-06-14
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