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Microphthalmia, Syndromic 3

Known as: Microphthalmia And Esophageal Atresia Syndrome, Syndromic Microphthalmia 3, Anophthalmia-Esophageal-Genital Syndrome 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2003-2017
012320032017

Related topics

Related topics

26 relations
Agenesis of corpus callosumAnophthalmosAutosomal dominant inheritanceCongenital hypoplasia of penis
(More)

Broader (3)

Congenital neurologic anomaliesEsophageal AtresiaMicrophthalmos

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Microphthalmia, Syndromic 3
Sensorineural Hearing Loss (disorder)
Ventricular Septal Defects
Autosomal dominant inheritance
Congenital neurologic anomalies
Patent ductus arteriosus

Papers overview

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2018
2018
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.
SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to… (More)
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2017
2017
Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.
Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac… (More)
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2015
2015
Obstructive sleep apnea pretreatment and posttreatment in symptomatic children with congenital craniofacial malformations.
STUDY OBJECTIVES Obstructive sleep symptoms are common in children with craniofacial malformations (CFM). However objective data… (More)
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2015
2015
Underestimated PTCH1 mutation rate in sporadic keratocystic odontogenic tumors.
OBJECTIVES Keratocystic odontogenic tumors (KCOTs) are benign cystic lesions of the jaws that occur sporadically in isolation or… (More)
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2014
2014
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance
Pierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway… (More)
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2013
2013
R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.
AIMS Heterozygous mutations in the transcription factor Nkx2.5 indicate a genetic cause for congenital heart diseases (CHDs) in… (More)
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2011
2011
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours
SOX2 is an early developmental transcription factor and marker of stem cells that has recently been implicated in the development… (More)
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Highly Cited
2011
Highly Cited
2011
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes
The HMG-box transcription factor Sox2 plays a role throughout neurogenesis and also acts at other stages of development, as… (More)
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2011
2011
Congenital heart defects and biomarkers of methylation in children: a case-control study.
BACKGROUND Derangements in the maternal methylation pathway, expressed by global hypomethylation and hyperhomocysteinemia, are… (More)
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2004
2004
(1S,2R/1R,2S)-cis-cyclopentyl PNAs (cpPNAs) as constrained PNA analogues: synthesis and evaluation of aeg-cpPNA chimera and stereopreferences in hybridization with DNA/RNA.
Conformationally constrained chiral PNA analogues were designed on the basis of stereospecific imposition of a 1,2-cis… (More)
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