| P50 | author | Corrado Romano | Q42141950 |
| P2093 | author name string | D Greco | |
| | M Elia | |
| P2860 | cites work | Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome | Q28302997 |
| | Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? | Q33673884 |
| | Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency | Q34057213 |
| | A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation | Q34283519 |
| | Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 |
| | Multicore myopathy, microcephaly, aganglionosis, and short stature | Q34724868 |
| | Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease | Q34729678 |
| | Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature. | Q34730563 |
| | Hirschprung's disease | Q34733361 |
| | McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature | Q40765898 |
| | Congenital muscular dystrophies: clinical review and proposed classification | Q40930579 |
| | Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome | Q41103024 |
| | Neurological presentations of mitochondrial diseases | Q41180852 |
| | Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene. | Q52515236 |
| | Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. | Q55033506 |
| P433 | issue | 4 | |
| P921 | main subject | muscle weakness | Q270421 |
| P304 | page(s) | 296-298 | |
| P577 | publication date | 2001-04-01 | |
| P1433 | published in | Journal of Child Neurology | Q6294935 |
| P1476 | title | Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: a variant of Niikawa-Kuroki syndrome or a new syndrome? | |
| P478 | volume | 16 | |