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...
- 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...
- There is also a link between SRY encoded transcription factor SOX9 and campomelic dysplasia (CD). This missense mutation causes defective chondrogenesis...
- Pierre Robin sequence-faciodigital anomaly syndrome, also known as Chitayat Meunier Hodgkinson syndrome, is a very rare genetic disorder which is characterized...
- disorder Birt–Hogg–Dubé syndrome Bladder cancer Breast cancer Bruck syndrome Campomelic dysplasia Canavan disease Cerebroretinal microangiopathy with calcifications...
- characteristics at puberty) in males and hyperfeminization in females. Campomelic dysplasia – a condition caused by de novo autosomal dominant mutations...
- syndrome HTRA1 1:156,000,000 Chronic granulomatous disorder 1:200,000 Campomelic dysplasia X 17q24.3–q25.1 C 1:40,000-200,000 Camptodactyly-taurinuria...