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Pediatric and Developmental Pathology, ISSN 1093-5266, 5/2018, Volume 21, Issue 3, pp. 324 - 331
Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. Since the seminal publication... 
hypothalamic hamartoma | congenital hypothalamic hamartoblastoma | autopsy | fetus | GLI3 | Pallister-Hall syndrome
Journal Article
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, ISSN 1093-5266, 05/2018, Volume 21, Issue 3, pp. 324 - 331
Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. Since the seminal publication... 
ANOMALIES | PATHOLOGY | congenital hypothalamic hamartoblastoma | VARIANT | GLI3 | hypothalamic hamartoma | DELINEATION | HYPOPITUITARISM | PEDIATRICS | MUTATIONS | autopsy | IMPERFORATE ANUS | fetus | Pallister-Hall syndrome | Pallister-Hall Syndrome - pathology | Pallister-Hall Syndrome - diagnosis | Abortion, Eugenic | Autopsy | Humans | Terminology as Topic | Adult | Female | Male
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 1, pp. 92 - 102
Journal Article
Annual Review of Genomics and Human Genetics, ISSN 1527-8204, 8/2017, Volume 18, Issue 1, pp. 1 - 29
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2016, Volume 25, Issue 3, pp. 437 - 447
Pallister-Hall syndrome (PHS) is a rare disorder caused by mutations in GLI3 that produce a transcriptional repressor (GLI3R). Individuals with PHS present... 
MORPHOGENESIS | LIMB | URETERAL BUD | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | CONGENITAL HYPOTHALAMIC HAMARTOBLASTOMA | PHENOTYPE | MICE | DIFFERENTIATION | MUTATIONS | KIDNEY | IMPERFORATE ANUS | Pallister-Hall Syndrome - pathology | Cell Proliferation | Kidney - pathology | Embryo, Mammalian | Homeodomain Proteins - metabolism | Humans | Zinc Finger Protein Gli3 | Hydronephrosis - genetics | Nephrons - abnormalities | Stem Cells - metabolism | Kidney - metabolism | Hydronephrosis - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Urogenital Abnormalities - metabolism | Pallister-Hall Syndrome - metabolism | Ureter - metabolism | Cell Lineage - genetics | Disease Models, Animal | Nephrons - embryology | Signal Transduction | Ureter - abnormalities | Transcription Factors - genetics | Pallister-Hall Syndrome - genetics | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Hydronephrosis - metabolism | Mice, Knockout | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Ureter - embryology | Phenotype | Urogenital Abnormalities - pathology | Animals | Kidney - abnormalities | Stem Cells - pathology | Mice | Mutation | Body Patterning - genetics | Kruppel-Like Transcription Factors - genetics | Nephrons - metabolism | Urogenital Abnormalities - genetics
Journal Article
Journal Article