| 单词 | x-linked hypogammaglobulinaemia and isolated growth hormone deficiency |
| 释义 | X-linked hypogammaglobulinaemia and isolated growth hormone deficiencyX-linked hypogammaglobulinaemia and isolated growth hormone deficiencyA rare X-linked condition (OMIM:307200) characterised by hypogammaglobulinaemia with isolated growth hormone deficiency. Like X-linked agammaglobulinaemia (OMIM:300755), it is caused by defects on BTK, a gene on chromosome Xq21.33-q22 that encodes a protein which plays a central role in B-cell development, differentiation and signalling. |
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