J Craniofac Surg 2020 Jan 20
Traumatic Cranio-Orbital Injury: Reconstruction Using Extraocular Muscles.
Oh C, Lin J, Lettieri S
Cranio-orbital trauma is an uncommon yet devastating injury, especially one in the setting of a high-energy gunshot wound. Such injuries were historic ...
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Source: PubMed
Am. J. Med. Genet. A 2020 Jan 08
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.
Pölsler L, Schatz UA, Simma B, Zschocke J, Rudnik-Schöneborn S
The joint occurrence of short stature, congenital dislocation of the hip, carpal coalition, dislocation of the radial head, cavus deformity, scoliosis ...
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Source: PubMed
J Community Genet 2020 Jan 03
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level.
Bronberg R, Groisman B, Bidondo MP, Barbero P, Liascovich R
The goal of our study is to describe the prevalence of congenital anomalies (CA) in hospitals of the City of Buenos Aires, Argentina, according to two ...
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Source: PubMed
Adv. Exp. Med. Biol.
Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia.
Habibi I, Youssef M, Marzouk E, El Shakankiri N, Gawdat G, El Sada M, F Schorderet D, Abou Zeid H
Anophthalmia and microphthalmia (A/M) are rare distinct phenotypes that represent a continuum of structural developmental eye defects. Here, we descri ...
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Source: PubMed
Int J Mol Sci
Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation.
Kim HK, Ham KA, Lee SW, Choi HS, Kim HS, Kim HK, Shin HS, Seo KY, Cho Y, Nam KT, Kim IB, Joe YA
Peroxidasin (PXDN) is a unique peroxidase containing extracellular matrix motifs and stabilizes collagen IV networks by forming sulfilimine crosslinks ...
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Source: PubMed
