Fig. 1 | Genetics in Medicine

Fig. 1

From: The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

Fig. 1

Pedigrees of the three families segregating the Liberfarb syndrome associated with homozygosity for an intronic deletion inPISD. (a) Family 1 is from Portugal; (b) family 2 from Brazil; and (c) family 3, who was the object of the first clinical description of this condition,17 resided in the United States but originated from the Azores islands. (d) Sanger sequencing of the variant, in controls and patients.

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