Table 10.

Geleophysic Dysplasia: Gene-Specific Laboratory Considerations

Gene 1Special Consideration
ADAMTSL2 To date, persons w/autosomal recessive ADAMTSL2-related geleophysic dysplasia have either biallelic missense variants or 1 missense & 1 nonsense variant. None have biallelic nonsense variants. Pathogenic variants are distributed throughout the gene [Marzin et al 2021].
FBN1 Mutational cluster in exons 41-42
LTBP3 None
1.

Genes from Table 1 in alphabetic order

From: Geleophysic Dysplasia

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