• -A difficult intubation of an infant with McKusick-Kaufman syndrome. Failure of the laryngeal mask-fibroscope sequence-
• A case of hydrometrocolpos and polydactyly
• A case of McKusick-Kaufman syndrome
• A case of McKusick-Kaufman Syndrome
• A case of McKusick-Kaufman syndrome with perinatal diagnosis: Case report and literature review
• A case report of a giant rectal adenoma causing secretory diarrhea and acute renal failure: McKittrick-Wheelock syndrome
• A female with complete lack of Mullerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?
• A Newborn with Rare McKusick Syndrome
• A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome
• A rare cause of hyponatraemia: McKittrick-Wheelock syndrome. Case report
• Aberrant subclavian artery origin in tetralogy of Fallot with pulmonary stenosis is associated with chromosomal or genetic abnormality
• Anaesthetic management in McKusick-Kaufman syndrome
• Anesthesia in Mckusick-Kaufman syndrome patient: case report.
• Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes
• Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?
• Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome
• BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
• Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia
• Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes
• Ciliopathy--cause of several peculiar syndromes
• Comparative genome analysis with the human genome reveals chicken genes associated with fatness and body weight
• Congenital imperforate hymen and its life-threatening consequences in the neonatal period
• Coupling genomics and human genetics to delineate basic mechanisms of development
• Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature
• Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family
• Diagnostic problems in a case with mucometrocolpos, polydactyly, congenital heart disease, and skeletal dysplasia
• Early abdomino-perineal pull-through vaginoplasty
• Ellis-van Creveld syndrome
• Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome
• Fetal hydrometrocolpos, uterus didelphys with low vaginal and anal atresia: difficulties in differentiation from a complex cloacal malformation: a case report
• Genetic and physical mapping of the McKusick-Kaufman syndrome
• Genetics of the female reproductive ducts
• Genitourinary malformations as a feature of the Pallister-Hall syndrome
• Giant fetal hydrometrocolpos associated with cloacal anomaly causing postnatal respiratory distress
• Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome
• Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
• Hydrometrocolpos and Post-axial Polydactyly Complicated With Acute Intestinal Obstruction and Hydroureteronephrosis
• Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report
• Hydrometrocolpos Presenting as a Huge Abdominal Swelling and Obstructive Uropathy in a 4 Day Old Newborn: A Diagnostic Challenge
• Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome
• Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
• Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
• Inpp5e Regulated the Cilium-Related Genes Contributing to the Neural Tube Defects Under 5-Fluorouracil Exposure
• McKrittick-Wheelock syndrome. Report of one case
• McKusick Kaufman syndrome, complications arising at puberty
• Mckusick Kaufman syndrome. Report of a case with hydrocolpos and polydactyly
• McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family
• McKusick-Kaufman Syndrome (MK catalogue #236700) presenting prenatally as fetal abdominal mass
• McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature
• Mckusick-kaufman syndrome presenting as acute intestinal obstruction
• McKusick-Kaufman Syndrome: A Case Report With an Emphasis on Perinatal Diagnosis and Genetic Counseling
• McKusick-Kaufman Syndrome: Atretic Upper Vaginal Pouch; an Unusual Urogenital MR Finding
• Mckusick-kaufman syndrome: diagnosis and management
• McKusick-Kaufman syndrome: diagnostic and therapeutic problems
• McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder
• McKusik Kaufman syndrome
• McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up
• MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination
• Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
• Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
• Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis
• Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients
• Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
• Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
• Neonatal fellowship. McKusick-Kaufman syndrome with legal complications of hydrometrocolpos and congenital endometriosis
• Newborn Imperforate Hymen Resulting in Hydronephrosis
• No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome
• Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein
• Our experience with McKusick-Kaufman syndrome patients
• Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome
• Persistent Urogenital Sinus: Diagnostic Imaging for Clinical Management. What Does the Radiologist Need to Know?
• Pharmacomechanical Catheter-Directed Thrombolysis for Deep-Vein Thrombosis
• Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related?
• Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review
• Prenatal diagnosis of anterior sacral meningocele
• Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases
• Prenatal diagnosis of isolated fetal hydrocolpos secondary to congenital imperforate hymen
• Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrome
• Prenatal diagnosis of persistent cloaca with hydrometrocolpos and ascites by magnetic resonance imaging in one fetus of a dizygotic twin pregnancy
• Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome
• Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm
• Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome
• Robot-assisted repair of a urogenital sinus with an anorectal malformation in a patient with McKusick-Kaufman syndrome
• Screening and cloning of genes related to varicose great saphenous vein accompanying with primary deep vein valve insufficiency
• Screening of 336 single-nucleotide polymorphisms in 85 obesity-related genes revealed McKusick-Kaufman syndrome gene variants are associated with metabolic syndrome
• Term pregnancy in a patient with McKusick-Kaufman syndrome
• The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome--a case report
• The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome: A rare case report
• The McKusick-Kaufman syndrome: a report of 5 new cases, including a male
• The McKusick-Kaufman syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases
• The Mckusick-Kaufman syndrome: report of a case with some associations
• The molecular genetics of Bardet-Biedl syndrome
• The retinal ciliopathies
• Translational repression of the McKusick-Kaufman syndrome transcript by unique upstream open reading frames encoding mitochondrial proteins with alternative polyadenylation sites
• Transversal vaginal septum in two months old patient--case report
• Ultrasound-guided fluid aspiration and prenatal diagnosis of duplicated hydrometrocolpos with uterus didelphys and septate vagina
• Unusual presentation of McKusick-Kaufman syndrome in a female Bedouin Arab baby
• Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome
• Variable phenotype in Kaufman-McKusick syndrome: report of an inbred Muslim family and review of the literature
• Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity