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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Fig. 1

Pedigrees and identification of variants in ATAD3A gene

(A) Pedigree of Family 1, visualisation of the c.229C>G, p.(Leu77Val) in WES data, and long-range PCR confirming deletion of exons 3 and 4; (B) Pedigree of Family 2, visualisation of the c.229C>G, p.(Leu77Val) and copy-number variation analysis from WES data, and long-range PCR confirming deletion of exons 3 and 4; (C) The read covering the breakpoint in the deletion of exons 3 and 4 in WES data of Patient 3

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