A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene

Achondrogenesis type 2/hypochondrogenesis is a rare cause of micromelic dwarfism in the neonatal period. Severe short stature, narrow chest, increased lordosis, protuberant abdomen, and characteristic facies are the typical clinical findings. A 13-month-old boy was referred to our clinic for severe...

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Veröffentlicht in:	Journal of clinical research in pediatric endocrinology 2015-09, Vol.7 (2)
Hauptverfasser:	Çatli, Gönül, Abaci, Ayhan, Anik, Ahmet, Shaneen, Ranad, Tuhan, Hale Ünver, Erçal, Derya, Böber, Ece, Ibrahim, Niema A, Hashem, Mais O, Alkuraya, Fowzan Sami
Format:	Artikel
Sprache:	eng ; tur
Online-Zugang:	Volltext
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