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- ... males, the mutations result in poorly developed or absent Leydig cells and impaired production of testosterone. A ...
- ... By age 20, iron accumulation causes decreased or absent secretion of sex hormones. Affected females usually begin ...
- ... arms. The most common abnormality is malformed or absent thumbs. Affected individuals may also have fingers that ...
- ... males, the mutations result in poorly developed or absent Leydig cells and impaired production of testosterone. A ...
- ... development and causes puberty to be delayed or absent.It is unclear how ANOS1 gene mutations lead ...
- ... mutations lead to the development of small or absent lymphatic vessels. If lymph fluid is not properly ...
- ... the vagina and uterus to be underdeveloped or absent, although external genitalia are normal. Affected individuals usually ...
- ... a short and stubby appearance with small or absent nails. Most affected individuals have several unusual facial ...
- ... that is quickly broken down. A dysfunctional or absent MPV17 protein leads to problems with the maintenance ...
- ... a late marker of epidermal differentiation and is absent in Mal de Meleda. J Invest Dermatol. 2007 ...