Literature DB >> 6698556

A new form of hypertrichosis inherited as an X-linked dominant trait.

M A Macías-Flores, D García-Cruz, H Rivera, M Escobar-Luján, A Melendrez-Vega, D Rivas-Campos, F Rodríguez-Collazo, I Moreno-Arellano, J M Cantú.   

Abstract

A family with a distinct form of congenital generalized hypertrichosis was studied. Males were more severely affected than females, who exhibited asymmetric hair distribution. This finding was attributed to lyonization, since genealogical studies indicated an X-linked pattern of inheritance. A back mutation is postulated as the origin of this new phenotype.

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Year:  1984        PMID: 6698556     DOI: 10.1007/bf00275189

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  4 in total

1.  Hypertrichosis lanuginosa in a mother and son.

Authors:  N Freire-Maia; J Felizali; A C de Figueiredo; J M Opitz; M Parreira; N A Maia
Journal:  Clin Genet       Date:  1976-11       Impact factor: 4.438

2.  Congenital hypertrichosis lanuginosa.

Authors:  P Beighton
Journal:  Arch Dermatol       Date:  1970-06

3.  [Hypertrichosis languinosa universalis].

Authors:  W R Felgenhauer
Journal:  J Genet Hum       Date:  1969-05

4.  A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity.

Authors:  J M Cantú; D García-Cruz; J Sánchez-Corona; A Hernández; Z Nazará
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

  4 in total
  12 in total

1.  X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.

Authors:  Hongwen Zhu; Dandan Shang; Miao Sun; Sunju Choi; Qing Liu; Jiajie Hao; Luis E Figuera; Feng Zhang; Kwong Wai Choy; Yang Ao; Yang Liu; Xiao-Lin Zhang; Fengzhen Yue; Ming-Rong Wang; Li Jin; Pragna I Patel; Tao Jing; Xue Zhang
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

2.  Atavisms in homo sapiens: a Bolkian heterodoxy revisited.

Authors:  J Verhulst
Journal:  Acta Biotheor       Date:  1996-03       Impact factor: 1.774

3.  Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.

Authors:  Mazen Kurban; Chong Ae Kim; Maija Kiuru; Katherine Fantauzzo; Rita Cabral; Ossama Abbas; Brynn Levy; Angela M Christiano
Journal:  Dermatology       Date:  2012-02-03       Impact factor: 5.366

Review 4.  [Genetically induced hair diseases].

Authors:  T Wiederholt; P Poblete-Gutiérrez; J Frank
Journal:  Hautarzt       Date:  2003-07-04       Impact factor: 0.751

Review 5.  [Genetic hair diseases. An update].

Authors:  J Frank; P Poblete-Gutiérrez; K Giehl
Journal:  Hautarzt       Date:  2013-11       Impact factor: 0.751

6.  A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.

Authors:  Thomas C Hart; Yingze Zhang; Michael C Gorry; P Suzanne Hart; Margaret Cooper; Mary L Marazita; Jared M Marks; Jose R Cortelli; Debora Pallos
Journal:  Am J Hum Genet       Date:  2002-02-26       Impact factor: 11.025

Review 7.  Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.

Authors:  Claudia M B Carvalho; Feng Zhang; James R Lupski
Journal:  Proc Natl Acad Sci U S A       Date:  2010-01-13       Impact factor: 11.205

Review 8.  [Hypertrichosis].

Authors:  R M Trüeb
Journal:  Hautarzt       Date:  2008-04       Impact factor: 0.751

9.  Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis.

Authors:  Katherine A Fantauzzo; Mazen Kurban; Brynn Levy; Angela M Christiano
Journal:  PLoS Genet       Date:  2012-11-01       Impact factor: 5.917

Review 10.  Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Authors:  Piero Pavone; Andrea D Praticò; Raffaele Falsaperla; Martino Ruggieri; Marcella Zollino; Giovanni Corsello; Giovanni Neri
Journal:  Ital J Pediatr       Date:  2015-08-05       Impact factor: 2.638

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