Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

H G Kim; S. R. Herrick; E Lemyre; S Kishikawa; J A Salisz; S Seminara; M E MacDonald; G A P Bruns; C C Morton; B J Quade; J F Gusella

doi:10.1136/jmg.2004.026989

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

H G Kim, S. R. Herrick, E Lemyre, S Kishikawa, J A Salisz, S Seminara, M E MacDonald, G A P Bruns, C C Morton, B J Quade, J F Gusella

Division of Evolution, Infection and Genomics

Brigham and Womens Hospital

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	666-72
Number of pages	7
Journal	Journal of Medical Genetics
Volume	42
Issue number	8
DOIs	https://doi.org/10.1136/jmg.2004.026989
Publication status	Published - Aug 2005

Keywords

Adult
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 8
Cleft Lip
Cleft Palate
DNA Mutational Analysis
Humans
In Situ Hybridization, Fluorescence
Kallmann Syndrome
Male
Microfilament Proteins
Molecular Sequence Data
Mutant Chimeric Proteins
Receptor, Fibroblast Growth Factor, Type 1
Tensins
Translocation, Genetic
Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, P.H.S.

Access to Document

10.1136/jmg.2004.026989

Cite this

Kim, H. G., Herrick, S. R., Lemyre, E., Kishikawa, S., Salisz, J. A., Seminara, S., MacDonald, M. E., Bruns, G. A. P., Morton, C. C., Quade, B. J., & Gusella, J. F. (2005). Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. Journal of Medical Genetics, 42(8), 666-72. https://doi.org/10.1136/jmg.2004.026989

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title = "Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1",

keywords = "Adult, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 7, Chromosomes, Human, Pair 8, Cleft Lip, Cleft Palate, DNA Mutational Analysis, Humans, In Situ Hybridization, Fluorescence, Kallmann Syndrome, Male, Microfilament Proteins, Molecular Sequence Data, Mutant Chimeric Proteins, Receptor, Fibroblast Growth Factor, Type 1, Tensins, Translocation, Genetic, Case Reports, Letter, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, P.H.S.",

author = "Kim, {H G} and Herrick, {S. R.} and E Lemyre and S Kishikawa and Salisz, {J A} and S Seminara and MacDonald, {M E} and Bruns, {G A P} and Morton, {C C} and Quade, {B J} and Gusella, {J F}",

year = "2005",

month = aug,

doi = "10.1136/jmg.2004.026989",

language = "English",

volume = "42",

pages = "666--72",

journal = "Journal of Medical Genetics",

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T1 - Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

AU - Kim, H G

AU - Herrick, S. R.

AU - Lemyre, E

AU - Kishikawa, S

AU - Salisz, J A

AU - Seminara, S

AU - MacDonald, M E

AU - Bruns, G A P

AU - Morton, C C

AU - Quade, B J

AU - Gusella, J F

PY - 2005/8

Y1 - 2005/8

KW - Adult

KW - Base Sequence

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 7

KW - Chromosomes, Human, Pair 8

KW - Cleft Lip

KW - Cleft Palate

KW - DNA Mutational Analysis

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Kallmann Syndrome

KW - Male

KW - Microfilament Proteins

KW - Molecular Sequence Data

KW - Mutant Chimeric Proteins

KW - Receptor, Fibroblast Growth Factor, Type 1

KW - Tensins

KW - Translocation, Genetic

KW - Case Reports

KW - Letter

KW - Research Support, N.I.H., Extramural

KW - Research Support, U.S. Gov't, P.H.S.

U2 - 10.1136/jmg.2004.026989

DO - 10.1136/jmg.2004.026989

M3 - Article

C2 - 16061567

SN - 1468-6244

VL - 42

SP - 666

EP - 672

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 8

ER -