Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister-Hall syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 6, 2009, Pages 1108-1115

  Guimiot, Fabien ^a   Marcorelles, Pascale ^b   Aboura, Azzedine ^a   Bonyhay, Georges ^c   Patrier, Sophie ^d   Menez, Françoise ^a   Drouin Garraud, Valérie ^d   Icowick, Valentine ^d   Eurin, Daniéle ^d   Garel, Catherine ^a   Moirot, Héléne ^d   Verspyck, Eric ^d   Saugier Veber, Pascale ^d   Attie Bitach, Tania ^e   Picone, Olivier ^f   Oury, Jean François ^a   Verloes, Alain ^a   Delezoide, Anne Lise ^a   Laquerrière, Annie ^d  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b BREST UNIVERSITY HOSPITAL   (France)

^c Montfermeil Hospital   (France)

^d ROUEN UNIVERSITY HOSPITAL   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Anoph microphthalmos; Facial asymmetry; Giant diencephalic hamartoma; Lip palate cleft; Pallister Hall syndrome

Indexed keywords

TRANSCRIPTION FACTOR GLI3;

ARTICLE; BRAIN MALFORMATION; DIENCEPHALON; DISEASE ASSOCIATION; FACE ASYMMETRY; FACE MALFORMATION; GENE MUTATION; GENETIC ANALYSIS; GIANT DIENCEPHALIC HARMARTOMA; HAMARTOMA; HOLOPROSENCEPHALY; HUMAN; IMMUNOHISTOCHEMISTRY; KARYOTYPE; NEUROLOGIC EXAMINATION; PALLISTER HALL SYNDROME; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ABORTION, INDUCED; ADULT; DIENCEPHALON; FACIES; FEMALE; GESTATIONAL AGE; HAMARTOMA; HUMANS; PALLISTER-HALL SYNDROME; PREGNANCY; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 66349112607     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32859     Document Type: Article

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