Definition of Campomelic. Meaning of Campomelic. Synonyms of Campomelic

- Campomelic dysplasia (CMD) is a genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features. It can be...
- protein expression. Mutations lead to the skeletal malformation syndrome campomelic dysplasia, frequently with autosomal ****-reversal and cleft palate. SOX9...
- patient in whom this mutation was detected had developed acampomelic campomelic dysplasia, a developmental disorder that causes skeletal, reproductive...
- infant is campomelic dysplasia, where hypoplasia of the sca****e and of the iliac bones with femoral dislocation may also occur. Campomelic dysplasia...
- Basel–Vanagaite–Sirota syndrome (Microlissencephaly-Micromelia syndrome) Campomelic dysplasia Cardiofaciocutaneous syndrome Catel–Manzke syndrome Cenani–Lenz...
- syndrome MPS VII Sanfilippo syndrome Zellweger syndrome Achondroplasia Campomelic dysplasia Craniodiaphyseal dysplasia Craniometaphyseal dysplasia Hypochondrogenesis...
- Pierre Robin sequence-faciodigital anomaly syndrome, also known as Chitayat Meunier Hodgkinson syndrome, is a very rare genetic disorder which is characterized...
- There is also a link between SRY encoded transcription factor SOX9 and campomelic dysplasia (CD). This missense mutation causes defective chondrogenesis...
- 3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian...
- characteristics at puberty) in males and hyperfeminization in females. Campomelic dysplasia – a condition caused by de novo autosomal dominant mutations...