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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis

Fig. 2

Compound heterozygous variants in DYNC2H1 in a family with SRTD3. A Familial pedigree. B DYNC2H1 NM_001377.3: c.11483 T > G was confirmed in family members by Sanger sequencing, and the foetus carried the c.11483G inherited from the mother. C DYNC2H1 NM_001377.3 c.2106 + 3A > T was confirmed by mass spectrometry, and the foetus carried the c.2106 + 3 T inherited from the father

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