FIGURE

Figure 1

ID

ZDB-FIG-250204-95

Publication

Falabella et al., 2024 - Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

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Figure 1

Family pedigrees and details of PTPMT1 variants. (A) Pedigrees of the three unrelated families showing consanguinity (double horizontal lines). Affected subjects (Subjects S1–S6) are represented by filled circles for females and filled squares for males. Arrow indicates proband (Subject S5) of Family 3. (B) Chromatograms from Sanger sequencing of PTPMT1 (NM_175732.3) genotypes for probands, parents and siblings of Families 1–3.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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