Publications:

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Bmc Medical Genetics

Hettiaracchchi, Dineshani D; Bonnard, Carine C; Jayawardana, S M A SMA; Ng, Alvin Yu Jin AYJ; Tohari, Sumanty S; Venkatesh, Byrappa B; Reversade, Bruno B; Singaraja, Roshni R; Dissanayake, V H W VHW

Publication Date: 2018-07-24

Variant appearance in text: LONP1: 1777G>A; Asp593Asn

PubMed Link: 30041615

Variant Present in the following documents:

• 12881_2018_646_MOESM1_ESM.xlsx, sheet 1

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