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. 2022 Apr 7;30(Suppl 1):88–608. doi: 10.1038/s41431-021-01026-1
Table 1: Phenotype, gene, variant and variant classification details of all 10 PGT-M cases.
Phenotype Gene Variant classification
Cholestasis, progressive familial intrahepatic 3 ABCB4 Class 3

Hypophosphatasia, childhood

Hypophosphatasia, infantile

ALPL Class 2
Epidermolysis bullosa dystrophica COL7A1 Class 2

Cardiomyopathy, dilated, with woolly hair and keratoderma

Epidermolysis bullosa, lethal acantholytic

Skin fragility-woolly hair syndrome

DSP Class 2
Ellis-van Creveld syndrome EVC2 Class 1
Fumarase deficiency FH Class 1
Spondylocarpotarsal synostosis syndrome FLNB Class 2
Glanzmann thrombasthenia ITGA2B Class 3
Mucopolysaccharidosis type IIIB NAGLU Class 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN Class 3