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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

Broader (4)

DysostosesIntellectual DisabilityMandibulofacial DysostosisMicrocephaly

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses
We report 2 cases of mandibulofacial dysostosis with microcephaly (MFDM) with different and novel de novo mutations in the… 
Highly Cited
2017
Highly Cited
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… 
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… 
Review
2016
Review
2016
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial… 
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… 
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… 
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… 
Highly Cited
2012
Highly Cited
2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Review
2012
Review
2012
Unified circuit modeling technique for the simulation of electrostatic discharge (ESD) injected by an ESD generator
In this paper, we describe the modeling and simulation techniques of electrostatic discharge (ESD) events. First, the existing… 
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… 
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