| scholarly article | Q13442814 |
| P2093 | author name string | T. A. White | |
| M. Fowler | |||
| C. H. Greer | |||
| R. Dow | |||
| P2860 | cites work | Arthrogryposis multiplex due to congenital muscular dystrophy | Q34242122 |
| A case of arthrogryposis multiplex congenita with lesions in the nervous system | Q36049736 | ||
| Hydranencephaly and Allied Disorders: A Study of Cerebral Defect in Chinese Children | Q36049821 | ||
| The syndrome of sex-linked hydrocephalus | Q36050360 | ||
| Congenital toxoplasmosis in two successive sibs | Q36062273 | ||
| Multilocular cystic encephalopathy of infants | Q39474905 | ||
| Hydranencephaly (hydrencephaly). | Q41532688 | ||
| Sex-linked hydrocephalus. Report of a family with 15 affected members | Q41551143 | ||
| Arthrogryposis accompanying congenital spinal-type muscular atrophy | Q42168115 | ||
| Congenital cytomegalovirus infection in two siblings from consecutive pregnancies | Q44604692 | ||
| Hydrencephaly in a baby after an aircraft accident to the mother: case report and autopsy | Q48867509 | ||
| Cerebral malformation and degeneration produced in later foetal life by a primary cardiac anomaly | Q51247019 | ||
| Anencephaly Related to Ocular Development and Malformation | Q69995801 | ||
| Generalized cytomegalic inclusion disease | Q74529618 | ||
| ARTHROGRYPOSIS MULTIPLEX CONGENITA ASSOCIATED WITH TUBEROUS SCLEROSIS. A CASE REPORT | Q76806677 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | sibling | Q31184 |
| autopsy | Q41482 | ||
| hydrocephalus | Q193003 | ||
| P304 | page(s) | 173-188 | |
| P577 | publication date | 1972-04-01 | |
| P1433 | published in | Developmental Medicine and Child Neurology | Q15716651 |
| P1476 | title | Congenital Hydrocephalus-Hydrencephaly in Five Siblings, with Autopsy Studies: a New Disease | |
| P478 | volume | 14 |
| Q33668771 | A family study of hydrocephalus resulting from aqueduct stenosis |
| Q48765478 | Asymmetric arthrogryposis multiplex congenita with focal pachygyria |
| Q28281756 | Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts |
| Q32053080 | Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression |
| Q52354955 | Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. |
| Q28509184 | GPR124, an orphan G protein-coupled receptor, is required for CNS-specific vascularization and establishment of the blood-brain barrier |
| Q38208296 | Heme in pathophysiology: a matter of scavenging, metabolism and trafficking across cell membranes |
| Q34130018 | High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy |
| Q70458592 | Hydrencephaly |
| Q99710868 | MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme |
| Q28275139 | Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome) |
| Q48689840 | Prenatal clastic encephalopathies |
| Q48271667 | Primary congenital rhabdoid tumor of the brain with neoplastic hydranencephaly |
| Q52676189 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism. |
| Q67019095 | Recurrence risks for congenital hydrocephalus |
| Q24298998 | The Fowler syndrome-associated protein FLVCR2 is an importer of heme |
| Q34118596 | Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing |
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