about
A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation.Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndromeDe novo mutations in PLXND1 and REV3L cause Möbius syndromeOverlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.A rare cause of congenital adrenal hyperplasia: Clinical and genetic findings and follow-up characteristics of six patients with 17- hydroxylase deficiency and two novel mutations.Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.Mild nasal clefting may be predictive for ALX4 heterozygotes.Postnatal diagnosis of 22q11.2 deletion syndrome in fetal megalourethra.Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 casesVariants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosisAn unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucityRSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6ALX4 related parietal foramina mimicking encephalocele in prenatal periodMAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritanceTwins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensationPrenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation SpectrumPrimary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype
P50
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Umut Altunoglu
@en
Umut Altunoglu
@nl
type
label
Umut Altunoglu
@en
Umut Altunoglu
@nl
prefLabel
Umut Altunoglu
@en
Umut Altunoglu
@nl
P31
P496
0000-0002-3172-5368