Hormone Research in Paediatrics · 2011 · 34 citations · 13 references
There is high polymorphic variability of FOXE1-polyAla in both groups. Shorter variants of FOXE1-polyAla are underrepresented in subjects with familial TH. Therefore, FOXE1-polyAla tract expansion may contribute to the molecular background of familial but not sporadic forms of TH. Further studies are still required to confirm such findings.
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Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Stefan Mundlos, F Otto, C Mundlos et al. · Cell · 1997 · 1.5K citations · Full text
TbetaR-I(6A) is a candidate tumor susceptibility allele.
Boris Pasche, P Kolachana, Khédoudja Nafa et al. · PubMed · 1999 · 163 citations
Nine-alanine Stretch, Tumor Heterogeneity, Growth Factor +13
A Mouse Model Demonstrates a Multigenic Origin of Congenital Hypothyroidism
Elena Amendola, Pasquale De Luca, Paolo Emidio Macchia et al. · Endocrinology · 2005 · 124 citations
Congenital hypothyroidism, spiky hair, and cleft palate.
J. Bamforth, Ieuan A. Hughes, John H. Lazarus et al. · Journal of Medical Genetics · 1989 · 121 citations · Full text
Spiky Hair, Gynecology, Embryology +18