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Annual Review of Cell and Developmental Biology, ISSN 1081-0706, 11/2011, Volume 27, Issue 1, pp. 513 - 537
Journal Article
Romanian Neurosurgery, ISSN 1220-8841, 09/2019, Volume 33, Issue 3, pp. 305 - 309
Pallister-Hall syndrome (PHS) is extremely rare autosomal dominant disorder with typical clinical features such as presence of polydactyly, hypothalamic... 
Spontaneous CSF rhinorrhea | nasal liquorrhea | Pallister-Hall syndrome
Journal Article
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
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 56 - 56
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia,... 
RESPIRATORY-CHAIN DEFICIENCY | MEDICINE, RESEARCH & EXPERIMENTAL | MULTIPLE CONGENITAL-ANOMALIES | GENOTYPE-PHENOTYPE CORRELATIONS | PRENATAL SONOGRAPHIC DIAGNOSIS | VATER-ASSOCIATION | TOWNES-BROCKS-SYNDROME | ACID RECEPTORS RARS | GENETICS & HEREDITY | PALLISTER-HALL-SYNDROME | RIGHT PULMONARY AGENESIS | HOLT-ORAM-SYNDROME | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Radius - pathology | Kidney - pathology | Humans | Male | Tracheoesophageal Fistula - complications | Anus, Imperforate - pathology | Spine - abnormalities | Heart Defects, Congenital - genetics | Abnormalities, Multiple - epidemiology | Female | Spine - pathology | Anal Canal - pathology | Abnormalities, Multiple - genetics | Anus, Imperforate - diagnosis | Infant, Newborn | Trachea - abnormalities | Tracheoesophageal Fistula - epidemiology | Anus, Imperforate - complications | Heart Defects, Congenital - pathology | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Trachea - pathology | Limb Deformities, Congenital - diagnosis | Esophagus - pathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Abnormalities, Multiple - diagnosis | Anus, Imperforate - genetics | Tracheoesophageal Fistula - genetics | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Anus, Imperforate - epidemiology | Limb Deformities, Congenital - pathology | Care and treatment | Genetic aspects | Prognosis | Diagnosis | VATER syndrome
Journal Article
Journal Article