Literature DB >> 2896798

Martsolf's syndrome in a non-Jewish boy.

P Strisciuglio1, M Costabile, M Esposito, S Di Maio.   

Abstract

Martsolf's syndrome has been described in Jewish people. We describe a patient of non-Jewish ancestry who has minor differences from other patients. The possible pattern of inheritance is discussed.

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Mesh：

Year:  1988        PMID： 2896798      PMCID： PMC1015513          DOI： 10.1136/jmg.25.4.267

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  The hormonal response to HCG stimulation in male children and adolescents.

Authors:  J S Winter; S Taraska; C Faiman
Journal:  J Clin Endocrinol Metab       Date:  1972-02       Impact factor: 5.958

2.  Two brothers with Martsolf's syndrome.

Authors:  J M Sánchez; C Barreiro; H Freilij
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

3.  Cataracts and testicular failure in three brothers.

Authors:  M S Lubinsky
Journal:  Am J Med Genet       Date:  1983-10

4.  Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers.

Authors:  J T Martsolf; A G Hunter; J C Haworth
Journal:  Am J Med Genet       Date:  1978

5.  Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.

Authors:  M A Mikati; S S Najjar; I F Sahli; R E Melhem; S Mansour; V M Der Kaloustian
Journal:  Am J Med Genet       Date:  1985-11
  5 in total
  5 in total

1.  Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Authors:  J M Graham ; K Anyane-Yeboa; A Raams; E Appeldoorn; W J Kleijer; V H Garritsen; D Busch; T G Edersheim; N G Jaspers
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

2.  Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.

Authors:  M G Harbord; M Baraitser; J Wilson
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

3.  Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Authors:  L B Meira; J M Graham; C R Greenberg; D B Busch; A T Doughty; D W Ziffer; D M Coleman; I Savre-Train; E C Friedberg
Journal:  Am J Hum Genet       Date:  2000-03-15       Impact factor: 11.025

4.  Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.

Authors:  Nesrine Kerkeni; Maher Kharrat; Faouzi Maazoul; Hela Boudabous; Ridha M'rad; Mediha Trabelsi
Journal:  J Clin Neurol       Date:  2022-02-14       Impact factor: 3.077

5.  Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

Authors:  Irene A Aligianis; Neil V Morgan; Marina Mione; Colin A Johnson; Elisabeth Rosser; Raoul C Hennekam; Gill Adams; Richard C Trembath; Daniela T Pilz; Neil Stoodley; Anthony T Moore; Steve Wilson; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2006-02-14       Impact factor: 11.025
  5 in total

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