1.
Schweiz Med Wochenschr
; 115(35): 1200-5, 1985 Aug 31.
Artigo
em Alemão
| MEDLINE
| ID: mdl-3931215
RESUMO
A family with congenital athyropexinemia is reported. By reconstruction of the family tree over seven generations, a heterozygous woman born in 1842 was identified as the first carrier of the anomaly who introduced the disorder into two family branches by marrying twice. 24 descendants examined included 6 heterozygous females and 8 hemizygous males. All were euthyroid. The mode of inheritance was obviously linked to the X-chromosome. An interesting fact was that in one family thyroxine binding globulin was absent or measured only in traces in hemizygous patients.