Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon

Autor:	Sietse M. Aukema, Christa M. de Geus, Simon G. F. Robben, Kim J. A. F. van Kaam, Heleen M. Staal, Adhiambo M. Witlox, Nicole A. J. de la Haye, Merel Klaassens, Audrey Coumans, Alexander P. A. Stegmann, Dror Paley, Constance T. R. M. Stumpel
Přispěvatelé:	MUMC+: DA KG Polikliniek (9), RS: SHE - R1 - Research (OvO), Beeldvorming, MUMC+: DA BV Medisch Specialisten Radiologie (9), MUMC+: MA AIOS Orthopedie (9), Orthopedie, MUMC+: MA Orthopedie (9), RS: CAPHRI - R2 - Creating Value-Based Health Care, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica
Rok vydání:	2021
Předmět:	CHD7 DEFICIENCY INSIGHTS LIMB ANOMALIES Tibia MUTATIONS Ectromelia Genetics Humans Femur CHARGE Syndrome DIAGNOSIS Genetics (clinical)
Zdroj:	American Journal of Medical Genetics Part A, 188(3), 1000-1004. Wiley American Journal of Medical Genetics, Part A, 188(3), 1000-1004. Wiley
ISSN:	1552-4833 1552-4825
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05887daf8ccb18af1ce2ae9c207f1491 https://pubmed.ncbi.nlm.nih.gov/34894067 Zobrazit plný text záznamu Plný text