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Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14173
Abstract: While inherited hemizygous variants in PHF6 cause X‐linked recessive Borjeson‐Forssman‐Lehmann syndrome (BFLS) in males, de novo heterozygous variants in females are associated with an overlapping but distinct phenotype, including moderate to severe intellectual disability, characteristic…
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Keywords:
forssman lehmann;
lehmann syndrome;
variants phf6;
borjeson forssman ... See more keywords