Ophthalmo-Acromelic Syndrome Latest Advances

Progressive scoliosis associated with microphthalmia with limb anomalies: A case report.

Journal: Medicine

Published: March 24, 2023

PORCN-related microphthalmia with limb anomalies: Case report and literature review.

Journal: American journal of medical genetics. Part A

Published: May 09, 2022

Secreted modular calcium-binding proteins in pathophysiological processes and embryonic development.

Journal: Chinese medical journal

Published: October 16, 2019

Ophthalmo-acromelic syndrome in an infant.

Journal: European journal of medical genetics

Published: September 18, 2018

A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome.

Journal: European journal of medical genetics

Published: March 25, 2017

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.

Journal: Ophthalmic genetics

Published: January 14, 2017

Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.

Journal: American journal of medical genetics. Part A

Published: January 04, 2013

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Journal: American journal of human genetics

Published: November 01, 2010

SMOC1 is essential for ocular and limb development in humans and mice.

Journal: American journal of human genetics

Published: September 29, 2010

Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

Journal: Genetic counseling (Geneva, Switzerland)

Published: March 23, 2007