SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

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Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

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SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

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2016 nî lūn-bûn

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SMARCE1, a rare cause of Coffi ...... ion of three additional cases.

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SMARCE1, a rare cause of Coffi ...... ion of three additional cases.

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SMARCE1, a rare cause of Coffi ...... ion of three additional cases.

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SMARCE1, a rare cause of Coffi ...... ion of three additional cases.

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SMARCE1, a rare cause of Coffi ...... ion of three additional cases.

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SMARCE1, a rare cause of Coffi ...... ion of three additional cases.

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SMARCE1, a rare cause of Coffi ...... tion of three additional cases

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Afifa Irani

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Dong Li

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Elizabeth Bhoj

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Hakon Hakonarson

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Julie Kaylor

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Luis Escobar

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Naomichi Matsumoto

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Noriko Miyake

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Samantha A Schrier Vergano

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Yuri A Zarate

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P2860

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

Mental retardation with absent fifth fingernail and terminal phalanx.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

The ARID1B phenotype: what we have learned so far.

Coffin-Siris syndrome is a SWI/SNF complex disorder.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

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Shubha R Phadke

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SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

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P2860

P2860

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

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