Orphanet: Diagn�stico del enanismo microcef�lico osteodispl�sico primordial�tipos 1, 2 y 3 genes PCNT, RNU4ATAC

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Diagnosis of microcephalic osteodysplastic primordial dwarfism types I, II and III (PCNT, RNU4ATAC genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 25/08/2016
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Last update: August 2016

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (2)
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