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Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.
We report on three further cases of mildly retarded patients with marfanoid habitus and a pattern of minor anomalies. These patients are likely to be affected with the Lujan-Fryns syndrome. We haveExpand
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Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in parathyroids, enteropancreatic endocrine tissues, anterior pituitary, and other tissues. TheExpand
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Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature.
Restrictive dermopathy is a rare, lethal autosomal recessive syndrome. We report on 3 unrelated affected stillborn infants of consanguineous parents. Clinical findings include a tight, thin,Expand
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Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees.
PURPOSE Familial clustering of abdominal aortic aneurysm was first noticed in 1977. METHODS Through questionnaire and phone inquiry, familial data on 324 probands with abdominal aortic aneurysmsExpand
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Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.
We report on a case of neonatal hypothalamic hamartoblastoma with holoprosencephaly, Hirschsprung disease, and tetramelic postaxial polydactyly. Twenty-seven previous cases of congenital hypothalamicExpand
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Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.
BACKGROUND The defect in chloride and sodium transport in cystic fibrosis (CF) patients is a consequence of CF transmembrane conductance regulator (CFTR) loss of function and an abnormal interactionExpand
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Chromosomes and human infertility. I. Mitotic and meiotic chromosome studies in 202 consecutive male patients
Mitotic and meiotic chromoqome studies in 202 consecutive infertile male patients are reported. From our results and those available from the literature, the following conclusions can be drawn. 1.Expand
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Genetic risk in natural and medically assisted procreation.
Current in vitro fertilization techniques (IVF) including intracytoplasmic sperm injection (ICSI), microepididymal sperm aspiration (MESA) or testicular sperm extraction (TESE) clearly prevent anyExpand
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Loss of the Y chromosome in bone marrow cells: results on 1907 consecutive cases of leukaemia and preleukaemia.
Loss of the Y chromosome with a resulting 45, X0 karyotype is observed in normal bone marrow cells of elderly males but also in haematological malignancies. Whether Y loss in neoplastic cells isExpand
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Clinical overlap of Beckwith‐Wiedemann, Perlman and Simpson‐Golabi‐Behmel syndromes: a diagnostic pitfall
We report on a child who died in the neonatal period. Major external anomalies included foetal overgrowth, macroglossia, and ambiguous genitalia (micropenis and perineoscrotal hypospadias withExpand
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