Holoprosencephaly flashcards: A summary for the clinician

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 154, Issue 1, 2010, Pages 3-7

  Solomon, Benjamin D ^a,b   Pineda Alvarez, Daniel E ^a,b   Mercier, Sandra ^c,d   Raam, Manu S ^b,e   Odent, Sylvie ^c,d,f   Muenke, Maximilian ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b Muenke Lab

^c UNIVERSITÉ DE RENNES 1   (France)

^d SERVICE DE RHUMATOLOGIE   (France)

^e HHMI NIH Research Scholars Program   (United States)

^f Center of Reference for Rare Diseases

Author keywords

Flashcards; Holoprosencephaly

Indexed keywords

CHOLESTEROL METABOLISM; CHROMOSOME ANALYSIS; CLINICAL ASSESSMENT; CLINICAL GENETICS; CRANIOFACIAL MALFORMATION; CRANIOFACIAL MORPHOLOGY; DISEASE CLASSIFICATION; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; FAMILY COUNSELING; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; HOLOPROSENCEPHALY; HUMAN; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; POSTNATAL DEVELOPMENT; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; REHABILITATION CARE; RISK FACTOR; SHORT SURVEY;

ALGORITHMS; DIAGNOSTIC TECHNIQUES AND PROCEDURES; EDUCATION, MEDICAL, CONTINUING; HOLOPROSENCEPHALY; HUMANS; MODELS, BIOLOGICAL;

EID: 76149142178     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30245     Document Type: Short Survey

References (3)

1. Hahn JS, Plawner LL. 2004. Evaluation and management of children with holoprosencephaly. Pediatr Neurol 31:79-88.
2. Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, SmithW, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M. 2009. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet 46:389-398.
3. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M. 1996. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14: 357-360.