Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review

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Cecile Thomas-Teinturier1, Arrate Pereda2, Intza Garin2

  • 1Pediatric Endocrinology, APHP, Hôpital Bicêtre, Le Kremlin Bicêtre, France.

American Journal of Medical Genetics. Part A
|December 8, 2015
PubMed

Keywords:
PTHLHPTHrPbrachydactyly type Eshort stature

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