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Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

Known as: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MFDM, MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY 
 
National Institutes of Health

Related topics

Related topics

16 relations
Atresia of the external auditory canalAtrial Septal DefectsAutosomal dominant inheritanceConductive hearing loss
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Broader (4)

DysostosesIntellectual DisabilityMandibulofacial DysostosisMicrocephaly

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
The Fourier decomposition method for nonlinear and non-stationary time series analysis
for many decades, there has been a general perception in the literature that Fourier methods are not suitable for the analysis of… Expand
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2017
2017
Mandibulofacial dysostosis with microcephaly成人の長期経過
Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with… Expand
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2017
2017
IC Failure Analysis Due to Charged Board Events by Measurements and Modeling of Discharging Currents Through IC Pins
Commercial integrated circuits (ICs) were assembled on several practical printed circuit board (PCB) structures, and the… Expand
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2017
2017
The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant condition that was first described in 2006. The… Expand
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2015
2015
Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.
Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities… Expand
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2014
2014
Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations
We present the phenotype of three unrelated Polish patients with MFD type Guion-Almeida confirmed by EFTUD2 mutations. In all of… Expand
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2013
2013
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
BackgroundMutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM… Expand
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2013
2013
Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome.
The mandibulofacial dysostoses are congenital disorders that result in abnormalities of the first and second pharyngeal arches… Expand
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Highly Cited
2012
Highly Cited
2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations… Expand
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2001
2001
Analysis of dielectric waveguides by a modified Fourier decomposition method with adaptive mapping parameters
The adaptive modified Fourier decomposition method (A-MFDM), a recently proposed technique to perform the modal analysis of… Expand
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