Hinreiner, Sophie

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany. [electronic resource] - American journal of medical genetics. Part C, Seminars in medical genetics 06 2018 - 198-205 p. digital

Publication Type: Journal Article

1552-4876

10.1002/ajmg.c.31625 doi


Brain--abnormalities
Branchial Region--abnormalities
Chromosome Deletion
Chromosomes, Human, Pair 1--genetics
Eye Proteins--genetics
Facies
Female
Genetic Testing--methods
Germany
Hedgehog Proteins--genetics
High-Throughput Nucleotide Sequencing--methods
Holoprosencephaly--diagnosis
Homeodomain Proteins--genetics
Humans
Male
Microphthalmos--diagnosis
Mutation
Nerve Tissue Proteins--genetics
Nuclear Proteins--genetics
Pedigree
Pregnancy
Prenatal Diagnosis
Transcription Factors--genetics
Homeobox Protein SIX3