A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma

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A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma

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scientific article published on 12 November 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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A delayed diagnosis of Pallist ...... on of a hypothalamic hamartoma

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A delayed diagnosis of Pallist ...... on of a hypothalamic hamartoma

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A delayed diagnosis of Pallist ...... on of a hypothalamic hamartoma

@en

A delayed diagnosis of Pallist ...... on of a hypothalamic hamartoma

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A delayed diagnosis of Pallist ...... on of a hypothalamic hamartoma

@en

A delayed diagnosis of Pallist ...... on of a hypothalamic hamartoma

@nl

P1476

A delayed diagnosis of Pallist ...... on of a hypothalamic hamartoma

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P2093

Diana Ishak

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P2860

Gli proteins encode context-dependent positive and negative functions: implications for development and disease

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

New insights into genotype-phenotype correlation for GLI3 mutations.

GLI3-related polydactyly: a review.

Familial Pallister-Hall in adulthood.

Gonadal mosaicism in severe Pallister-Hall syndrome.

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

P2888

s41439-018-0031-9

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scholarly article

case report

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10.1038/S41439-018-0031-9

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English

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P478

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P50

Joanne Ngeow

Eliza Courtney

Du Soon Swee

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2018-11-12T00:00:00Z

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30455963

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6232149

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