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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

Fig. 2

The variant in ATRX in Patient 3. (a) Pedigree of Patient 3. Arrow and P indicate the proband; star indicates members who underwent Sanger sequencing. (b) ATRX sequence result of Patient 3 and his parents. A hemizygous variant c.6257 T > C; p.(Leu2086Ser) in ATRX (NM_000489.3) was identified in the proband (IV:1). His mother (III:3) was in heterozygous state for the variant and his father (III:2) was wild type at the same site

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BMC Medical Genetics

ISSN: 1471-2350

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