Ophthalmo-Acromelic Syndrome Latest Advances
Find the Latest Research About Ophthalmo-Acromelic Syndrome
Last Updated: 06/30/2026
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Found 11 publications
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.
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
Cranial MR imaging findings in Waardenburg syndrome: anophthalmia, and hypothalamic hamartoma.
Journal: Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society
Published: January 16, 1999
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Last Updated: 06/30/2026