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Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8508637

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

About this item

Full title

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

Publisher

Basel: MDPI AG

Journal title

International journal of molecular sciences, 2021-10, Vol.22 (19), p.10375

Language

English

Formats

Publication information

Publisher

Basel: MDPI AG

More information

Scope and Contents

Contents

Rett syndrome (RTT) is a severe neurodevelopmental disorder that constitutes the second most common cause of intellectual disability in females worldwide. In the past few years, the advancements in genetic diagnosis brought by next generation sequencing (NGS), have made it possible to identify more than 90 causative genes for RTT and significantly...

Alternative Titles

Full title

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8508637

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8508637

Other Identifiers

ISSN

1422-0067,1661-6596

E-ISSN

1422-0067

DOI

10.3390/ijms221910375

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