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Journal article

The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations

G Turner, KM Lower, SM White, M Delatycki, AK Lampe, M Wright, J Clayton-Smith, B Kerr, S Schelley, HE Hoyme, BBA De Vries, T Kleefstra, M Grompe, B Cox, J Gecz, M Partington

Clinical Genetics | WILEY | Published : 2004

DOI: 10.1111/j.0009-9163.2004.00215.x

University of Melbourne Researchers

Martin Wright's Profile Picture
Martin Wright Author Paediatrics Royal Children's Hospital

Susan White's Profile Picture
Susan White Author Paediatrics Royal Children's Hospital

Martin Delatycki's Profile Picture
Martin Delatycki Author Melbourne School of Population and Global Health

Grants

Citation metrics

47Web of Science
49Scopus
51Dimensions

Keywords

Muscle Hypotonia
Skewed X Inactivation
Failure To Thrive
Male
Big Ears
Female
Science & Technology
Musculoskeletal Abnormalities
Phenotype
Syndromic X-Linked Mental Retardation
Genetic Diseases, X-Linked
Gynecomastia
Humans
Phf6 Mutations
Mutation
Abnormalities, Multiple
Intellectual Disability
Pedigree
Borjeson-Forssman-Lehmann Syndrome
Syndrome
Genetics & Heredity
Life Sciences & Biomedicine
Hypotonia

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