Clinical trials: Multiple Abnormalies
Malformations, Multiple Abnormalies
Phenotype and Etiology of Pallister-Hall Syndrome
We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl…
- Conditions
- Malformations, Multiple Abnormalies, Polydactyly
- Trial name
- NCT00001404
- Where
- 4 sites in United States, Turkey (Türkiye)
- Volunteers
- 1,170 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Multiple Abnormalies
Microarray Application in Newborns With Multiple Congenital Anomalies
Objective: Congenital anomalies are defined as abnormalities of body structure or function that are present at birth and have developed prenatally.
- Trial name
- CNV-MCA (NCT06694896)
- Testing
- Microarray Application
- Where
- Turkey (Türkiye)
- Volunteers
- 63 people
- Sponsor
- Konya City Hospital
Holoprosencephaly, HPE
Clinical and Genetic Studies on Holoprosencephaly
This study will examine how holoprosencephaly (HPE) affects people, how they change over time, and what genes may be involved in the cause of the disorder.
- Conditions
- Holoprosencephaly, HPE, Developmental Delay Disorders, Brain Disorders
- Trial name
- NCT00088426
- Where
- United States
- Volunteers
- 256 people
- Sponsor
- National Human Genome Research Institute (NHGRI)