Article
Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2018
Hinreiner Sophie, Wieczorek Dagmar, Mueller Dietmar, Roedl Tanja, Thiel Gundula, Grasshoff Ute, Chaoui Rabih, Hehr Ute
Abstract excerpt
Holoprosencephaly (HPE) has been defined as a distinct clinical entity with characteristic facial gestalt, which may-or may not-be associated with the true brain malformation observed postmortem in autopsy or in pre- or postnatal imaging. Affected families mainly show autosomal dominant inheritance with markedly reduced penetrance and extremely broad clinical variability even between mutation carriers within the...
Topics
- Brain
- Branchial Region
- Chromosome Deletion
- Chromosomes, Human, Pair 1
- Eye Proteins
- Facies
- Female
- Genetic Testing
- Germany
- Hedgehog Proteins
- High-Throughput Nucleotide Sequencing
- Holoprosencephaly
- Homeodomain Proteins