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Human Mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 148 - 154
ABSTRACT Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss,... 
EFTUD2 | microcephaly | mandibulofacial dysostosis Guion‐Almeida type | mandibulofacial dysostosis | MFDM | mandibulofacial dysostosis with microcephaly | Mandibulofacial dysostosis with microcephaly | Microcephaly | Mandibulofacial dysostosis Guion-Almeida type | Mandibulofacial dysostosis | mandibulofacial dysostosis Guion-Almeida type | ESOPHAGEAL ATRESIA | COMPLEX | PROTEIN | MENTAL-RETARDATION | TREACHER-COLLINS-SYNDROME | PHENOTYPES | EFTUD2 MUTATIONS | HAPLOINSUFFICIENCY | SNRNP | CHOANAL ATRESIA | GENETICS & HEREDITY | Abnormalities, Multiple - pathology | Hearing Loss - diagnosis | Microcephaly - genetics | Spliceosomes - genetics | Humans | Mandibulofacial Dysostosis - pathology | Databases, Genetic | Molecular Sequence Data | Ribonucleoprotein, U5 Small Nuclear - genetics | Intellectual Disability - genetics | Mandibulofacial Dysostosis - genetics | RNA Splicing | Mandibulofacial Dysostosis - diagnosis | Microcephaly - pathology | Peptide Elongation Factors - genetics | Abnormalities, Multiple - genetics | Protein Structure, Tertiary | Gene Expression | Protein Structure, Secondary | Intellectual Disability - pathology | Microcephaly - diagnosis | Models, Molecular | Penetrance | Hearing Loss - pathology | Amino Acid Motifs | Haploinsufficiency | Hearing Loss - genetics | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Mutation | Boycotts | Databases | Lubrication and lubricants | Genomics | Genetic disorders
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 11/2013, Volume 163, Issue 4, pp. 283 - 294
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The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 925 - 933
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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 110 - 110
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