Opitz G/bbb Syndrome
What's New
Last Posted: Feb 28, 2023
- A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
van de Putte Romy, et al. Frontiers in pediatrics 2020 0 310 - Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Winter Jennifer, et al. Human genetics 2003 0 (3) 249-54 - Targeted next?generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate.
Bu Haisong, et al. Molecular medicine reports 2019 3 - Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome.
Zhang Xufeng, et al. Journal of human genetics 2011 5 (5) 348-51 - Opitz G/BBB syndrome
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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