Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung’s disease: a systematic review

Expanding the phenotype of IFAP/BRESECK syndrome: A new case with severe hypogammaglobulinemia

(2013) Susana Corujeira et al.   European Journal of Medical Genetics

A prospective observational study of associated anomalies in Hirschsprung’s disease

(2013) Alessio Pini Prato et al.   Orphanet Journal of Rare Diseases

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

(2011) Misako Naiki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

(2010) Matthew G. Sampson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The many faces of RET dysfunction in kidney

(2010) Sanjay Jain   Organogenesis

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

(2009) Frank Oeffner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical spectrum of Bardet–Biedl syndrome among four Saudi Arabian families

(2009) Mathew Punnachalil Cherian et al.   CLINICAL DYSMORPHOLOGY

Renal outcome in patients with congenital anomalies of the kidney and urinary tract

(2009) Simone Sanna-Cherchi et al.   KIDNEY INTERNATIONAL

Hirschsprung Disease and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

(2009) Alessio Pini Prato et al.   MEDICINE