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12/2010
Dandy-Walker malformation (DWM) is a rare intracranial congenital abnormality that affects the cerebellum and some of its components; particularly cerebellar... 
high arch palate | Dandy-Walker | hypertelorism
Web Resource
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 3, pp. 546 - 557
Journal Article
Vision Pan-America, ISSN 2219-4665, 09/2017, Volume 16, Issue 3, pp. 74 - 78
ABSTRACT Introduction: The diagnosis of pseudostrabismus is very common in  ophthalmology; especially pseudotropia. There is some dispute about the parameters... 
Pseudostrabismus , hypertelorism , Epicanthal
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 99 - 110
Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To... 
EPITHELIAL-MESENCHYMAL TRANSITION | FAMILIAL OCCURRENCE | SETLEIS SYNDROME | UNDIAGNOSED DISEASES | GENETICS & HEREDITY | MORPHOLOGY STANDARD TERMINOLOGY | SAETHRE-CHOTZEN SYNDROME | FRAMESHIFT MUTATION | ATROPHIC SKIN | TRANSCRIPTION FACTOR | AUTOSOMAL-DOMINANT INHERITANCE | Abnormalities, Multiple - pathology | Humans | Molecular Sequence Data | Hirsutism - pathology | Mutation, Missense - genetics | Chromatin Immunoprecipitation | Base Sequence | Hypertrichosis - pathology | Skin Abnormalities - pathology | Abnormalities, Multiple - genetics | Eyelid Diseases - genetics | Twist-Related Protein 1 - chemistry | Amino Acid Sequence | Eyelid Diseases - pathology | Repressor Proteins - chemistry | Hirsutism - genetics | Macrostomia - pathology | Hypertelorism - genetics | Models, Molecular | Repressor Proteins - genetics | Zebrafish | Hypertelorism - pathology | Macrostomia - genetics | Eye Abnormalities - genetics | Microscopy, Electron | Sequence Analysis, DNA | Exome - genetics | Phenotype | Animals | Hypertrichosis - genetics | Eye Abnormalities - pathology | Twist-Related Protein 1 - genetics | Protein Conformation | Skin Abnormalities - genetics | HeLa Cells | Physiological aspects | Genetic disorders | Gene mutations | Identification and classification | Genotype & phenotype | Correlation analysis | Amino acids | Mutation | Deoxyribonucleic acid--DNA
Journal Article
by Kaiser, Frank J and Ansari, Morad and Braunholz, Diana and Concepción Gil-Roíguez, María and Decroos, Christophe and Wilde, Jonathan J and Fincher, Christopher T and Kaur, Maninder and Bando, Masashige and Amor, David J and Atwal, Paldeep S and Bahlo, Melanie and Bowman, Christine M and Bradley, Jacquelyn J and Brunner, Han G and Clark, Dinah and del Campo, Miguel and Di Donato, Nataliya and Diakumis, Peter and Dubbs, Holly and Dyment, David A and Eckhold, Juliane and Ernst, Sarah and Ferreira, Jose C and Francey, Lauren J and Gehlken, Ulrike and Guillén-Navarro, Encarna and Gyftodimou, Yolanda and Hall, Bryan D and Hennekam, Raoul and Hudgins, Louanne and Hullings, Melanie and Hunter, Jennifer M and Yntema, Helger and Innes, A. Micheil and Kline, Antonie D and Krumina, Zita and Lee, Hane and Leppig, Kathleen and Lynch, Sally Ann and Mallozzi, Mark B and Mannini, Linda and McKee, Shane and Mehta, Sarju G and Micule, Ieva and Mohammed, Shehla and Moran, Ellen and Mortier, Geert R and Moser, Joe-Ann S and Noon, Sarah E and Nozaki, Naohito and Nunes, Luis and Pappas, John G and Penney, Lynette S and Pérez-Aytés, Antonio and Petersen, Michael B and Puisac, Beatriz and Revencu, Nicole and Roeder, Elizabeth and Saitta, Sulagna and Scheuerle, Angela E and Schindeler, Karen L and Siu, Victoria M and Stark, Zornitza and Strom, Samuel P and Thiese, Heidi and Vater, Inga and Willems, Patrick and Williamson, Kathleen and Wilson, Louise C and Hakonarson, Hakon and Quintero-Rivera, Fabiola and Wierzba, Jolanta and Musio, Antonio and Gillessen-Kaesbach, Gabriele and Ramos, Feliciano J and Jackson, Laird G and Shirahige, Katsuhiko and Pié, Juan and Christianson, David W and Krantz, Ian D and Fitzpatrick, David R and Deardorff, Matthew A and Univ Washington Ctr Mendelian Geno and CareRare Canada Consortium and Care4Rare Canada Consortium and University of Washington Center for Mendelian Genomics
Human molecular genetics, ISSN 0964-6906, 2014, Volume 23, Issue 11, pp. 2888 - 2900
Journal Article
Journal of Cranio-Maxillo-Facial Surgery, ISSN 1010-5182, 10/2019, Volume 47, Issue 10, pp. 1563 - 1568
The aim of this study was to identify the prevalence of the abnormal lateral interorbital distance (LIOD), micropthalmia or anopthalmia and incidence of... 
Hydrocephalus | Anopthalmia | Micropthalmia | FEEM | Orbital hypertelorism
Journal Article
1982, 1st ed. --, ISBN 9780316545822, xi, 201
Book