jmg.bmj

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...
jmg.bmj

Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Background Bartter syndrome (BS) is a salt-losing renal tubulopathy classically characterised by hypokalaemic metabolic alkalosis and hyperreninaemic hyperaldosteronism. Methods We investigated the ...
jmg.bmj

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

9 Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel 10 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Background Constitutional mismatch repair deficiency syndrome ...
jmg.bmj

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

Division of Endocrinology, Children’s Hospital Boston, Boston, Massachusetts, USA Dr B-L Wu, Department of Laboratory Medicine, Children’s Hospital Boston, 300 Longwood Ave, Boston, Massachusetts ...
jmg.bmj

The molecular genetics of Marfan syndrome and related disorders

9 Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 10 Department of Internal Medicine, University of Texas Medical School at Houston, ...
jmg.bmj

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

1 Institut National de la Santé et de la Recherche Médicale (INSERM) UMR_S933, Université Pierre et Marie Curie (UPMC) - Paris 6; and Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital ...
jmg.bmj

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

1 Department of Internal Medicine D, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel 2 Neurogenetics Clinic, Schneider Children's Medical Center of Israel, Petah Tikva, Israel 3 Sackler ...
jmg.bmj

Prenatal clinical manifestations in individuals with COL4A1/2 variants

Background Variants in the type IV collagen gene ( COL4A1/2 ) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with ...
jmg.bmj

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Background The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case–control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical ...
jmg.bmj

Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region

Correspondence to Dr Svetlana A Yatsenko, Department of Pathology, University of Pittsburgh, Gynecology & Reproductive Sciences, School of Medicine, 300 Halket St, Room 1233, Pittsburgh, PA 15213, USA ...
jmg.bmj

Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism

1 MD/PhD and Experimental Medicine Programs, University of British Columbia and the British Columbia Research Institute for Children’s and Women’s Health, Vancouver, British Columbia, Canada 2 ...
jmg.bmj

Online First

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome ...