Disease - Noonan syndrome-like disorder with loose anagen hair 2
- DefinitionA syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair.
- AcronymNSLH2
- Cross references
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Browse 1 entry- Serine/threonine-protein phosphatase PP1-beta catalytic subunit · Gene: PPP1CB · Homo sapiens (Human) · EC:3.1.3.16, EC:3.1.3.53 · 327 amino acids · Evidence at protein level · Annotation score: 5/5